NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 31, 2023
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:: RCV004719764.1

Allele description [Variation Report for NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)]

NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)

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.1129C>T (p.Arg377Ter)

HGVS:

NC_000003.12:g.69959370C>T
NG_011631.1:g.224889C>T
NM_000248.4:c.808C>T
NM_001184967.2:c.955C>T
NM_001354604.2:c.1129C>TMANE SELECT
NM_001354605.2:c.1126C>T
NM_001354606.2:c.1108C>T
NM_001354607.2:c.1060C>T
NM_001354608.2:c.955C>T
NM_006722.3:c.1108C>T
NM_198158.3:c.790C>T
NM_198159.3:c.1111C>T
NM_198177.3:c.1063C>T
NM_198178.3:c.622C>T
NP_000239.1:p.Arg270Ter
NP_001171896.1:p.Arg319Ter
NP_001341533.1:p.Arg377Ter
NP_001341534.1:p.Arg376Ter
NP_001341535.1:p.Arg370Ter
NP_001341536.1:p.Arg354Ter
NP_001341537.1:p.Arg319Ter
NP_006713.1:p.Arg370Ter
NP_937801.1:p.Arg264Ter
NP_937802.1:p.Arg371Ter
NP_937820.1:p.Arg355Ter
NP_937821.2:p.Arg208Ter
LRG_776t1:c.808C>T
LRG_776:g.224889C>T
NC_000003.11:g.70008521C>T
NM_000248.3:c.808C>T
NM_198159.2:c.1111C>T
p.Arg371X

Protein change:

R208*

Links:

dbSNP: rs876657699

NCBI 1000 Genomes Browser:

rs876657699

Molecular consequence:

NM_000248.4:c.808C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001184967.2:c.955C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354604.2:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354605.2:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354606.2:c.1108C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354607.2:c.1060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354608.2:c.955C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_006722.3:c.1108C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198158.3:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198159.3:c.1111C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198177.3:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198178.3:c.622C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005325770	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005325770

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 31, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV005325770.1

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

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 150 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34142234, 27759048)

#	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: May 16, 2025

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