NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) AND Waardenburg syndrome type 2A

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 1, 2019
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:: RCV001290151.2

Allele description [Variation Report for NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)]

NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)

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.928A>G (p.Arg310Gly)

HGVS:

NC_000003.12:g.69951859A>G
NG_011631.1:g.217378A>G
NM_000248.4:c.607A>G
NM_001184967.2:c.754A>G
NM_001354604.2:c.928A>GMANE SELECT
NM_001354605.2:c.925A>G
NM_001354606.2:c.907A>G
NM_001354607.2:c.859A>G
NM_001354608.2:c.754A>G
NM_006722.3:c.907A>G
NM_198158.3:c.589A>G
NM_198159.3:c.910A>G
NM_198177.3:c.862A>G
NM_198178.3:c.421A>G
NP_000239.1:p.Arg203Gly
NP_001171896.1:p.Arg252Gly
NP_001341533.1:p.Arg310Gly
NP_001341534.1:p.Arg309Gly
NP_001341535.1:p.Arg303Gly
NP_001341536.1:p.Arg287Gly
NP_001341537.1:p.Arg252Gly
NP_006713.1:p.Arg303Gly
NP_937801.1:p.Arg197Gly
NP_937802.1:p.Arg304Gly
NP_937820.1:p.Arg288Gly
NP_937821.2:p.Arg141Gly
LRG_776t1:c.607A>G
LRG_776:g.217378A>G
NC_000003.11:g.70001010A>G
NM_000248.3:c.607A>G

Protein change:

R141G

Links:

dbSNP: rs2066264802

NCBI 1000 Genomes Browser:

rs2066264802

Molecular consequence:

NM_000248.4:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.928A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.859A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.589A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.910A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.862A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.421A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Waardenburg syndrome type 2A (WS2A)
Synonyms:: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Identifiers:: MONDO: MONDO:0008671; MedGen: C1860339; Orphanet: 3440; OMIM: 193510

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478209	Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2019)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001763642	Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic	de novo	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478209

Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2019)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001763642

Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

case-control

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, case-control

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV001478209.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Deafness Molecular Diagnostic Center, Chinese PLA General Hospital, SCV001763642.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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