NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) AND Waardenburg syndrome type 2A

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: May 7, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000659862.2

Allele description [Variation Report for NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)]

NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)

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.953T>C (p.Leu318Pro)

HGVS:

NC_000003.12:g.69951884T>C
NG_011631.1:g.217403T>C
NM_000248.4:c.632T>C
NM_001184967.2:c.779T>C
NM_001354604.2:c.953T>CMANE SELECT
NM_001354605.2:c.950T>C
NM_001354606.2:c.932T>C
NM_001354607.2:c.884T>C
NM_001354608.2:c.779T>C
NM_006722.3:c.932T>C
NM_198158.3:c.614T>C
NM_198159.3:c.935T>C
NM_198177.3:c.887T>C
NM_198178.3:c.446T>C
NP_000239.1:p.Leu211Pro
NP_000239.1:p.Leu211Pro
NP_001171896.1:p.Leu260Pro
NP_001341533.1:p.Leu318Pro
NP_001341534.1:p.Leu317Pro
NP_001341535.1:p.Leu311Pro
NP_001341536.1:p.Leu295Pro
NP_001341537.1:p.Leu260Pro
NP_006713.1:p.Leu311Pro
NP_937801.1:p.Leu205Pro
NP_937802.1:p.Leu312Pro
NP_937820.1:p.Leu296Pro
NP_937821.2:p.Leu149Pro
LRG_776t1:c.632T>C
LRG_776:g.217403T>C
LRG_776p1:p.Leu211Pro
NC_000003.11:g.70001035T>C
NM_000248.3:c.632T>C
NM_001354607.1:c.884T>C

Protein change:

L149P

Links:

dbSNP: rs1553704097

NCBI 1000 Genomes Browser:

rs1553704097

Molecular consequence:

NM_000248.4:c.632T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.953T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.950T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.614T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.446T>C - 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
SCV000781743	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001164284	Laboratory of Prof. Karen Avraham, Tel Aviv University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 7, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000781743

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2016)

germline

clinical testing

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

SCV001164284

Laboratory of Prof. Karen Avraham, Tel Aviv University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 7, 2018)

germline

research

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
Jewish-Algerian	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000781743.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV001164284.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Jewish-Algerian	not provided	not provided	not provided	research	PubMed (1)

Description

Dominant, congenital, profound HL and albinism

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

Last Updated: Mar 5, 2024

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