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NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 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:
RCV000522973.3

Allele description [Variation Report for NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln)]

NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln)

Gene:
MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln)
HGVS:
  • NC_000003.12:g.69965205G>A
  • NG_011631.1:g.230724G>A
  • NM_000248.4:c.1217G>A
  • NM_001184967.2:c.1364G>A
  • NM_001354604.2:c.1538G>AMANE SELECT
  • NM_001354605.2:c.1535G>A
  • NM_001354606.2:c.1517G>A
  • NM_001354607.2:c.1469G>A
  • NM_001354608.2:c.1364G>A
  • NM_006722.3:c.1517G>A
  • NM_198158.3:c.1199G>A
  • NM_198159.3:c.1520G>A
  • NM_198177.3:c.1472G>A
  • NM_198178.3:c.1031G>A
  • NP_000239.1:p.Arg406Gln
  • NP_000239.1:p.Arg406Gln
  • NP_001171896.1:p.Arg455Gln
  • NP_001341533.1:p.Arg513Gln
  • NP_001341534.1:p.Arg512Gln
  • NP_001341535.1:p.Arg506Gln
  • NP_001341536.1:p.Arg490Gln
  • NP_001341537.1:p.Arg455Gln
  • NP_006713.1:p.Arg506Gln
  • NP_937801.1:p.Arg400Gln
  • NP_937802.1:p.Arg507Gln
  • NP_937820.1:p.Arg491Gln
  • NP_937821.2:p.Arg344Gln
  • LRG_776t1:c.1217G>A
  • LRG_776:g.230724G>A
  • LRG_776p1:p.Arg406Gln
  • NC_000003.11:g.70014356G>A
  • NM_000248.3:c.1217G>A
Protein change:
R344Q
Links:
dbSNP: rs1018390529
NCBI 1000 Genomes Browser:
rs1018390529
Molecular consequence:
  • NM_000248.4:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184967.2:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354604.2:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354605.2:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354606.2:c.1517G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354607.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354608.2:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006722.3:c.1517G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198158.3:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198159.3:c.1520G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198177.3:c.1472G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198178.3:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000621150GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 27, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000621150.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024