NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) AND Ear malformation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 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:: RCV001813988.3

Allele description [Variation Report for NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)]

NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)

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.961C>T (p.Arg321Ter)

HGVS:

NC_000003.12:g.69956460C>T
NG_011631.1:g.221979C>T
NM_000248.4:c.640C>T
NM_001184967.2:c.787C>T
NM_001354604.2:c.961C>TMANE SELECT
NM_001354605.2:c.958C>T
NM_001354606.2:c.940C>T
NM_001354607.2:c.892C>T
NM_001354608.2:c.787C>T
NM_006722.3:c.940C>T
NM_198158.3:c.622C>T
NM_198159.3:c.943C>T
NM_198177.3:c.895C>T
NM_198178.3:c.454C>T
NP_000239.1:p.Arg214Ter
NP_000239.1:p.Arg214Ter
NP_001171896.1:p.Arg263Ter
NP_001341533.1:p.Arg321Ter
NP_001341534.1:p.Arg320Ter
NP_001341535.1:p.Arg314Ter
NP_001341536.1:p.Arg298Ter
NP_001341537.1:p.Arg263Ter
NP_006713.1:p.Arg314Ter
NP_937801.1:p.Arg208Ter
NP_937802.1:p.Arg315Ter
NP_937820.1:p.Arg299Ter
NP_937821.2:p.Arg152Ter
LRG_776t1:c.640C>T
LRG_776:g.221979C>T
LRG_776p1:p.Arg214Ter
NC_000003.11:g.70005611C>T
NM_000248.3:c.640C>T
NM_001354604.2:c.961C>T
NM_198159.2:c.943C>T

Protein change:

R152*; ARG214TER

Links:

OMIM: 156845.0007; dbSNP: rs104893746

NCBI 1000 Genomes Browser:

rs104893746

Molecular consequence:

NM_000248.4:c.640C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001184967.2:c.787C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354604.2:c.961C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354605.2:c.958C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354606.2:c.940C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354607.2:c.892C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354608.2:c.787C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_006722.3:c.940C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198158.3:c.622C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198159.3:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198177.3:c.895C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198178.3:c.454C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ear malformation
Synonyms:: CUP EAR; Abnormality of the ear
Identifiers:: MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755250	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755250

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 10, 2021)

germline

clinical testing

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

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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755250.1

#	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

Last Updated: Jan 13, 2025

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