NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) AND Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000416286.3

Allele description [Variation Report for NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)]

NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)

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.939G>C (p.Lys313Asn)

HGVS:

NC_000003.12:g.69951870G>C
NG_011631.1:g.217389G>C
NM_000248.4:c.618G>C
NM_001184967.2:c.765G>C
NM_001354604.2:c.939G>CMANE SELECT
NM_001354605.2:c.936G>C
NM_001354606.2:c.918G>C
NM_001354607.2:c.870G>C
NM_001354608.2:c.765G>C
NM_006722.3:c.918G>C
NM_198158.3:c.600G>C
NM_198159.3:c.921G>C
NM_198177.3:c.873G>C
NM_198178.3:c.432G>C
NP_000239.1:p.Lys206Asn
NP_001171896.1:p.Lys255Asn
NP_001341533.1:p.Lys313Asn
NP_001341534.1:p.Lys312Asn
NP_001341535.1:p.Lys306Asn
NP_001341536.1:p.Lys290Asn
NP_001341537.1:p.Lys255Asn
NP_006713.1:p.Lys306Asn
NP_937801.1:p.Lys200Asn
NP_937802.1:p.Lys307Asn
NP_937820.1:p.Lys291Asn
NP_937821.2:p.Lys144Asn
LRG_776:g.217389G>C
NC_000003.11:g.70001021G>C
NM_198159.2:c.921G>C

Protein change:

K144N; LYS307ASN

Links:

OMIM: 156845.0010; dbSNP: rs1057519325

NCBI 1000 Genomes Browser:

rs1057519325

Molecular consequence:

NM_000248.4:c.618G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.765G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.939G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.936G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.918G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.870G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.765G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.918G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.600G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.921G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.432G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
Synonyms:: COMMAD syndrome
Identifiers:: MONDO: MONDO:0015014; MedGen: C4310625; OMIM: 617306

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494051	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494051

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 2017)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP.

Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23.

PubMed [citation]

PMID:: 27889061
PMCID:: PMC5142105

Details of each submission

From OMIM, SCV000494051.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.921G-C transversion (c.921G-C, NM_198159.2) in the MITF gene (isoform MITF-A), resulting in a lys307-to-asn (K307N) substitution, that was found in compound heterozygous state in a 5-year-old boy with coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD; 617306) by George et al. (2016), see 156845.0003. The proband's mother, who exhibited features of Waardenburg syndrome type 2A (WS2A; 193510), was heterozygous for the K307N mutation.

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

Last Updated: Sep 17, 2022

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