NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2017
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001266356.2
Allele description [Variation Report for NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly)]
NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly)
- 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.1448A>G (p.Asp483Gly)
- HGVS:
- NC_000011.10:g.47281732A>G
- NG_029462.1:g.17357A>G
- NM_001135943.2:c.1448A>G
- NM_001135944.2:c.1448A>G
- NM_001376571.1:c.1448A>G
- NM_001376572.1:c.1448A>G
- NM_001376573.1:c.1448A>G
- NM_001376574.1:c.1448A>G
- NM_001376575.1:c.1448A>G
- NM_001376576.1:c.1448A>G
- NM_001376577.1:c.1448A>G
- NM_001376578.1:c.1448A>G
- NM_001376579.1:c.1448A>G
- NM_001376580.1:c.1448A>G
- NM_001376581.1:c.1448A>G
- NM_001376582.1:c.1448A>G
- NM_001376583.1:c.1448A>G
- NM_001376584.1:c.1448A>G
- NM_001376585.1:c.1448A>G
- NM_001376586.1:c.1448A>G
- NM_001376593.1:c.1448A>G
- NM_001376594.1:c.1448A>G
- NM_001376595.1:c.1448A>G
- NM_001376596.1:c.1448A>G
- NM_001376597.1:c.1448A>G
- NM_001376598.1:c.1448A>G
- NM_001376599.1:c.1448A>G
- NM_001376600.1:c.1448A>G
- NM_001376601.1:c.1448A>G
- NM_001376602.1:c.1448A>G
- NM_001376603.1:c.1448A>G
- NM_001376604.1:c.1448A>G
- NM_001376605.1:c.1448A>G
- NM_001376606.1:c.1448A>G
- NM_001376607.1:c.1448A>G
- NM_001376608.1:c.1448A>G
- NM_001376609.1:c.1448A>G
- NM_001376610.1:c.1448A>G
- NM_001376611.1:c.1448A>G
- NM_001376612.1:c.1448A>G
- NM_001376613.1:c.1448A>G
- NM_001376614.1:c.1448A>G
- NM_001376615.1:c.1448A>G
- NM_001376616.1:c.1448A>G
- NM_001376617.1:c.1448A>G
- NM_001376618.1:c.1448A>G
- NM_001376619.1:c.1448A>G
- NM_001376620.1:c.1244A>G
- NM_001376621.1:c.1448A>G
- NM_001376622.1:c.1448A>G
- NM_001376623.1:c.1448A>G
- NM_001376624.1:c.1448A>G
- NM_001376625.1:c.1448A>G
- NM_001376626.1:c.1244A>G
- NM_001376627.1:c.1244A>G
- NM_001376628.1:c.1448A>G
- NM_001376629.1:c.1448A>G
- NM_001376630.1:c.1448A>G
- NM_001376631.1:c.1448A>G
- NM_001376632.1:c.1448A>G
- NM_001376633.1:c.1448A>G
- NM_001376634.1:c.1448A>G
- NM_001376635.1:c.1244A>G
- NM_001376636.1:c.1448A>G
- NM_001376637.1:c.1448A>G
- NM_001376638.1:c.1448A>G
- NM_001376639.1:c.1448A>G
- NM_001376640.1:c.1448A>G
- NM_001376641.1:c.1448A>G
- NM_001376642.1:c.1448A>G
- NM_001376643.1:c.1448A>G
- NM_001376644.1:c.1244A>G
- NM_001376645.1:c.1448A>G
- NM_001376646.1:c.1244A>G
- NM_001376647.1:c.1244A>G
- NM_001376648.1:c.1244A>G
- NM_001376649.1:c.1448A>G
- NM_001376650.1:c.1448A>G
- NM_001376651.1:c.1448A>G
- NM_001376652.1:c.1448A>G
- NM_001376653.1:c.1448A>G
- NM_001376654.1:c.1244A>G
- NM_001376655.1:c.1448A>G
- NM_001376656.1:c.1448A>G
- NM_001376657.1:c.1244A>G
- NM_001376658.1:c.1448A>G
- NM_001376659.1:c.1244A>G
- NM_001376660.1:c.1244A>G
- NM_001376661.1:c.1448A>G
- NM_001376662.1:c.1448A>G
- NM_001376663.1:c.782A>G
- NM_003682.4:c.1448A>G
- NM_130470.3:c.1448A>G
- NM_130471.3:c.1448A>G
- NM_130472.3:c.1448A>G
- NM_130473.3:c.1448A>G
- NM_130474.3:c.1448A>G
- NM_130475.3:c.1448A>G
- NM_130476.3:c.1448A>G
- NP_001129415.1:p.Asp483Gly
- NP_001129416.1:p.Asp483Gly
- NP_001363500.1:p.Asp483Gly
- NP_001363501.1:p.Asp483Gly
- NP_001363502.1:p.Asp483Gly
- NP_001363503.1:p.Asp483Gly
- NP_001363504.1:p.Asp483Gly
- NP_001363505.1:p.Asp483Gly
- NP_001363506.1:p.Asp483Gly
- NP_001363507.1:p.Asp483Gly
- NP_001363508.1:p.Asp483Gly
- NP_001363509.1:p.Asp483Gly
- NP_001363510.1:p.Asp483Gly
- NP_001363511.1:p.Asp483Gly
- NP_001363512.1:p.Asp483Gly
- NP_001363513.1:p.Asp483Gly
- NP_001363514.1:p.Asp483Gly
- NP_001363515.1:p.Asp483Gly
- NP_001363522.1:p.Asp483Gly
- NP_001363523.1:p.Asp483Gly
- NP_001363524.1:p.Asp483Gly
- NP_001363525.1:p.Asp483Gly
- NP_001363526.1:p.Asp483Gly
- NP_001363527.1:p.Asp483Gly
- NP_001363528.1:p.Asp483Gly
- NP_001363529.1:p.Asp483Gly
- NP_001363530.1:p.Asp483Gly
- NP_001363531.1:p.Asp483Gly
- NP_001363532.1:p.Asp483Gly
- NP_001363533.1:p.Asp483Gly
- NP_001363534.1:p.Asp483Gly
- NP_001363535.1:p.Asp483Gly
- NP_001363536.1:p.Asp483Gly
- NP_001363537.1:p.Asp483Gly
- NP_001363538.1:p.Asp483Gly
- NP_001363539.1:p.Asp483Gly
- NP_001363540.1:p.Asp483Gly
- NP_001363541.1:p.Asp483Gly
- NP_001363542.1:p.Asp483Gly
- NP_001363543.1:p.Asp483Gly
- NP_001363544.1:p.Asp483Gly
- NP_001363545.1:p.Asp483Gly
- NP_001363546.1:p.Asp483Gly
- NP_001363547.1:p.Asp483Gly
- NP_001363548.1:p.Asp483Gly
- NP_001363549.1:p.Asp415Gly
- NP_001363550.1:p.Asp483Gly
- NP_001363551.1:p.Asp483Gly
- NP_001363552.1:p.Asp483Gly
- NP_001363553.1:p.Asp483Gly
- NP_001363554.1:p.Asp483Gly
- NP_001363555.1:p.Asp415Gly
- NP_001363556.1:p.Asp415Gly
- NP_001363557.1:p.Asp483Gly
- NP_001363558.1:p.Asp483Gly
- NP_001363559.1:p.Asp483Gly
- NP_001363560.1:p.Asp483Gly
- NP_001363561.1:p.Asp483Gly
- NP_001363562.1:p.Asp483Gly
- NP_001363563.1:p.Asp483Gly
- NP_001363564.1:p.Asp415Gly
- NP_001363565.1:p.Asp483Gly
- NP_001363566.1:p.Asp483Gly
- NP_001363567.1:p.Asp483Gly
- NP_001363568.1:p.Asp483Gly
- NP_001363569.1:p.Asp483Gly
- NP_001363570.1:p.Asp483Gly
- NP_001363571.1:p.Asp483Gly
- NP_001363572.1:p.Asp483Gly
- NP_001363573.1:p.Asp415Gly
- NP_001363574.1:p.Asp483Gly
- NP_001363575.1:p.Asp415Gly
- NP_001363576.1:p.Asp415Gly
- NP_001363577.1:p.Asp415Gly
- NP_001363578.1:p.Asp483Gly
- NP_001363579.1:p.Asp483Gly
- NP_001363580.1:p.Asp483Gly
- NP_001363581.1:p.Asp483Gly
- NP_001363582.1:p.Asp483Gly
- NP_001363583.1:p.Asp415Gly
- NP_001363584.1:p.Asp483Gly
- NP_001363585.1:p.Asp483Gly
- NP_001363586.1:p.Asp415Gly
- NP_001363587.1:p.Asp483Gly
- NP_001363588.1:p.Asp415Gly
- NP_001363589.1:p.Asp415Gly
- NP_001363590.1:p.Asp483Gly
- NP_001363591.1:p.Asp483Gly
- NP_001363592.1:p.Asp261Gly
- NP_003673.3:p.Asp483Gly
- NP_569826.2:p.Asp483Gly
- NP_569827.2:p.Asp483Gly
- NP_569828.2:p.Asp483Gly
- NP_569829.2:p.Asp483Gly
- NP_569830.2:p.Asp483Gly
- NP_569831.1:p.Asp483Gly
- NP_569832.2:p.Asp483Gly
- NC_000011.9:g.47303283A>G
- NM_003682.3:c.1448A>G
- NR_164835.1:n.1650A>G
- NR_164836.1:n.1650A>G
- NR_164837.1:n.1650A>G
- NR_164838.1:n.1500A>G
- NR_164839.1:n.1650A>G
- NR_164840.1:n.1650A>G
- NR_164841.1:n.1650A>G
- NR_164842.1:n.1650A>G
This HGVS expression did not pass validation- Protein change:
- D261G
- Links:
- dbSNP: rs2056880551
- NCBI 1000 Genomes Browser:
- rs2056880551
- Molecular consequence:
- NM_001135943.2:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001135944.2:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376571.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376572.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376573.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376574.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376575.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376576.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376577.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376578.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376579.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376580.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376581.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376582.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376583.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376584.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376585.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376586.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376593.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376594.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376595.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376596.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376597.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376598.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376599.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376600.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376601.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376602.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376603.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376604.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376605.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376606.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376607.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376608.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376609.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376610.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376611.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376612.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376613.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376614.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376615.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376616.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376617.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376618.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376619.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376620.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376621.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376622.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376623.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376624.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376625.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376626.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376627.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376628.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376629.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376630.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376631.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376632.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376633.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376634.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376635.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376636.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376637.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376638.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376639.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376640.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376641.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376642.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376643.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376644.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376645.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376646.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376647.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376648.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376649.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376650.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376651.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376652.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376653.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376654.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376655.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376656.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376657.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376658.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376659.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376660.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376661.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376662.1:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376663.1:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_003682.4:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130470.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130471.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130472.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130473.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130474.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130475.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_130476.3:c.1448A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_164835.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164836.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164837.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164838.1:n.1500A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164839.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164840.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164841.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164842.1:n.1650A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Observations:
- 1
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001444530 | Ambry Genetics | criteria provided, single submitter (Ambry exome assertion method (8-5-2015)) | Uncertain significance (May 4, 2017) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
Caucasian | germline | yes | 1 | not provided | not provided | 1 | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV001444530.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Caucasian | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Jan 7, 2023