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NM_001376571.1(MADD):c.2096G>A (p.Arg699His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001531098.15

Allele description [Variation Report for NM_001376571.1(MADD):c.2096G>A (p.Arg699His)]

NM_001376571.1(MADD):c.2096G>A (p.Arg699His)

Gene:
MADD:MAP kinase activating death domain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_001376571.1(MADD):c.2096G>A (p.Arg699His)
HGVS:
  • NC_000011.10:g.47284504G>A
  • NG_029462.1:g.20129G>A
  • NM_001135943.2:c.2096G>A
  • NM_001135944.2:c.2096G>A
  • NM_001376571.1:c.2096G>AMANE SELECT
  • NM_001376572.1:c.2096G>A
  • NM_001376573.1:c.2096G>A
  • NM_001376574.1:c.2096G>A
  • NM_001376575.1:c.2096G>A
  • NM_001376576.1:c.2096G>A
  • NM_001376577.1:c.2096G>A
  • NM_001376578.1:c.2096G>A
  • NM_001376579.1:c.2096G>A
  • NM_001376580.1:c.2096G>A
  • NM_001376581.1:c.2096G>A
  • NM_001376582.1:c.2096G>A
  • NM_001376583.1:c.2096G>A
  • NM_001376584.1:c.2096G>A
  • NM_001376585.1:c.2096G>A
  • NM_001376586.1:c.2096G>A
  • NM_001376593.1:c.2096G>A
  • NM_001376594.1:c.2096G>A
  • NM_001376595.1:c.2096G>A
  • NM_001376596.1:c.2096G>A
  • NM_001376597.1:c.2096G>A
  • NM_001376598.1:c.2096G>A
  • NM_001376599.1:c.2096G>A
  • NM_001376600.1:c.2096G>A
  • NM_001376601.1:c.2096G>A
  • NM_001376602.1:c.2072G>A
  • NM_001376603.1:c.2096G>A
  • NM_001376604.1:c.2096G>A
  • NM_001376605.1:c.2096G>A
  • NM_001376606.1:c.2096G>A
  • NM_001376607.1:c.2096G>A
  • NM_001376608.1:c.2096G>A
  • NM_001376609.1:c.2096G>A
  • NM_001376610.1:c.2096G>A
  • NM_001376611.1:c.2096G>A
  • NM_001376612.1:c.2096G>A
  • NM_001376613.1:c.2096G>A
  • NM_001376614.1:c.2096G>A
  • NM_001376615.1:c.2096G>A
  • NM_001376616.1:c.2096G>A
  • NM_001376617.1:c.2096G>A
  • NM_001376618.1:c.2096G>A
  • NM_001376619.1:c.2096G>A
  • NM_001376620.1:c.1892G>A
  • NM_001376621.1:c.2096G>A
  • NM_001376622.1:c.2096G>A
  • NM_001376623.1:c.2096G>A
  • NM_001376624.1:c.2096G>A
  • NM_001376625.1:c.2096G>A
  • NM_001376626.1:c.1892G>A
  • NM_001376627.1:c.1892G>A
  • NM_001376628.1:c.2096G>A
  • NM_001376629.1:c.2096G>A
  • NM_001376630.1:c.2096G>A
  • NM_001376631.1:c.2096G>A
  • NM_001376632.1:c.2096G>A
  • NM_001376633.1:c.2096G>A
  • NM_001376634.1:c.2096G>A
  • NM_001376635.1:c.1892G>A
  • NM_001376636.1:c.2096G>A
  • NM_001376637.1:c.2096G>A
  • NM_001376638.1:c.2096G>A
  • NM_001376639.1:c.2096G>A
  • NM_001376640.1:c.2096G>A
  • NM_001376641.1:c.2096G>A
  • NM_001376642.1:c.2096G>A
  • NM_001376643.1:c.2096G>A
  • NM_001376644.1:c.1892G>A
  • NM_001376645.1:c.2096G>A
  • NM_001376646.1:c.1892G>A
  • NM_001376647.1:c.1892G>A
  • NM_001376648.1:c.1892G>A
  • NM_001376649.1:c.2096G>A
  • NM_001376650.1:c.2096G>A
  • NM_001376651.1:c.2096G>A
  • NM_001376652.1:c.2096G>A
  • NM_001376653.1:c.2096G>A
  • NM_001376654.1:c.1892G>A
  • NM_001376655.1:c.2096G>A
  • NM_001376656.1:c.2096G>A
  • NM_001376657.1:c.1892G>A
  • NM_001376658.1:c.2096G>A
  • NM_001376659.1:c.1892G>A
  • NM_001376660.1:c.1892G>A
  • NM_001376661.1:c.2096G>A
  • NM_001376662.1:c.2096G>A
  • NM_001376663.1:c.1430G>A
  • NM_003682.4:c.2096G>A
  • NM_130470.3:c.2096G>A
  • NM_130471.3:c.2096G>A
  • NM_130472.3:c.2096G>A
  • NM_130473.3:c.2096G>A
  • NM_130474.3:c.2096G>A
  • NM_130475.3:c.2096G>A
  • NM_130476.3:c.2096G>A
  • NP_001129415.1:p.Arg699His
  • NP_001129416.1:p.Arg699His
  • NP_001363500.1:p.Arg699His
  • NP_001363501.1:p.Arg699His
  • NP_001363502.1:p.Arg699His
  • NP_001363503.1:p.Arg699His
  • NP_001363504.1:p.Arg699His
  • NP_001363505.1:p.Arg699His
  • NP_001363506.1:p.Arg699His
  • NP_001363507.1:p.Arg699His
  • NP_001363508.1:p.Arg699His
  • NP_001363509.1:p.Arg699His
  • NP_001363510.1:p.Arg699His
  • NP_001363511.1:p.Arg699His
  • NP_001363512.1:p.Arg699His
  • NP_001363513.1:p.Arg699His
  • NP_001363514.1:p.Arg699His
  • NP_001363515.1:p.Arg699His
  • NP_001363522.1:p.Arg699His
  • NP_001363523.1:p.Arg699His
  • NP_001363524.1:p.Arg699His
  • NP_001363525.1:p.Arg699His
  • NP_001363526.1:p.Arg699His
  • NP_001363527.1:p.Arg699His
  • NP_001363528.1:p.Arg699His
  • NP_001363529.1:p.Arg699His
  • NP_001363530.1:p.Arg699His
  • NP_001363531.1:p.Arg691His
  • NP_001363532.1:p.Arg699His
  • NP_001363533.1:p.Arg699His
  • NP_001363534.1:p.Arg699His
  • NP_001363535.1:p.Arg699His
  • NP_001363536.1:p.Arg699His
  • NP_001363537.1:p.Arg699His
  • NP_001363538.1:p.Arg699His
  • NP_001363539.1:p.Arg699His
  • NP_001363540.1:p.Arg699His
  • NP_001363541.1:p.Arg699His
  • NP_001363542.1:p.Arg699His
  • NP_001363543.1:p.Arg699His
  • NP_001363544.1:p.Arg699His
  • NP_001363545.1:p.Arg699His
  • NP_001363546.1:p.Arg699His
  • NP_001363547.1:p.Arg699His
  • NP_001363548.1:p.Arg699His
  • NP_001363549.1:p.Arg631His
  • NP_001363550.1:p.Arg699His
  • NP_001363551.1:p.Arg699His
  • NP_001363552.1:p.Arg699His
  • NP_001363553.1:p.Arg699His
  • NP_001363554.1:p.Arg699His
  • NP_001363555.1:p.Arg631His
  • NP_001363556.1:p.Arg631His
  • NP_001363557.1:p.Arg699His
  • NP_001363558.1:p.Arg699His
  • NP_001363559.1:p.Arg699His
  • NP_001363560.1:p.Arg699His
  • NP_001363561.1:p.Arg699His
  • NP_001363562.1:p.Arg699His
  • NP_001363563.1:p.Arg699His
  • NP_001363564.1:p.Arg631His
  • NP_001363565.1:p.Arg699His
  • NP_001363566.1:p.Arg699His
  • NP_001363567.1:p.Arg699His
  • NP_001363568.1:p.Arg699His
  • NP_001363569.1:p.Arg699His
  • NP_001363570.1:p.Arg699His
  • NP_001363571.1:p.Arg699His
  • NP_001363572.1:p.Arg699His
  • NP_001363573.1:p.Arg631His
  • NP_001363574.1:p.Arg699His
  • NP_001363575.1:p.Arg631His
  • NP_001363576.1:p.Arg631His
  • NP_001363577.1:p.Arg631His
  • NP_001363578.1:p.Arg699His
  • NP_001363579.1:p.Arg699His
  • NP_001363580.1:p.Arg699His
  • NP_001363581.1:p.Arg699His
  • NP_001363582.1:p.Arg699His
  • NP_001363583.1:p.Arg631His
  • NP_001363584.1:p.Arg699His
  • NP_001363585.1:p.Arg699His
  • NP_001363586.1:p.Arg631His
  • NP_001363587.1:p.Arg699His
  • NP_001363588.1:p.Arg631His
  • NP_001363589.1:p.Arg631His
  • NP_001363590.1:p.Arg699His
  • NP_001363591.1:p.Arg699His
  • NP_001363592.1:p.Arg477His
  • NP_003673.3:p.Arg699His
  • NP_569826.2:p.Arg699His
  • NP_569827.2:p.Arg699His
  • NP_569828.2:p.Arg699His
  • NP_569829.2:p.Arg699His
  • NP_569830.2:p.Arg699His
  • NP_569831.1:p.Arg699His
  • NP_569832.2:p.Arg699His
  • NC_000011.9:g.47306055G>A
  • NR_164835.1:n.2298G>A
  • NR_164836.1:n.2298G>A
  • NR_164837.1:n.2298G>A
  • NR_164838.1:n.2148G>A
  • NR_164839.1:n.2298G>A
  • NR_164840.1:n.2298G>A
  • NR_164841.1:n.2298G>A
  • NR_164842.1:n.2274G>A
Protein change:
R477H
Links:
dbSNP: rs751993844
NCBI 1000 Genomes Browser:
rs751993844
Molecular consequence:
  • NM_001135943.2:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135944.2:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376571.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376572.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376573.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376574.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376575.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376576.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376577.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376578.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376579.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376580.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376581.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376582.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376583.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376584.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376585.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376586.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376593.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376594.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376595.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376596.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376597.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376598.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376599.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376600.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376601.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376602.1:c.2072G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376603.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376604.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376605.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376606.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376607.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376608.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376609.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376610.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376611.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376612.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376613.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376614.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376615.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376616.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376617.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376618.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376619.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376620.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376621.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376622.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376623.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376624.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376625.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376626.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376627.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376628.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376629.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376630.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376631.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376632.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376633.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376634.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376635.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376636.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376637.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376638.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376639.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376640.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376641.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376642.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376643.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376644.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376645.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376646.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376647.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376648.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376649.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376650.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376651.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376652.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376653.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376654.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376655.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376656.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376657.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376658.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376659.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376660.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376661.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376662.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376663.1:c.1430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003682.4:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130470.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130471.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130472.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130473.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130474.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130475.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130476.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164835.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164836.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164837.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164838.1:n.2148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164839.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164840.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164841.1:n.2298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164842.1:n.2274G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001746064CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Feb 1, 2021) 		germlineclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001746064.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: May 12, 2024