NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 2022
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:: RCV003130165.3

Allele description [Variation Report for NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)]

NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)

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.1517G>A (p.Gly506Glu)

HGVS:

NC_000003.12:g.69965184G>A
NG_011631.1:g.230703G>A
NM_000248.4:c.1196G>A
NM_001184967.2:c.1343G>A
NM_001354604.2:c.1517G>AMANE SELECT
NM_001354605.2:c.1514G>A
NM_001354606.2:c.1496G>A
NM_001354607.2:c.1448G>A
NM_001354608.2:c.1343G>A
NM_006722.3:c.1496G>A
NM_198158.3:c.1178G>A
NM_198159.3:c.1499G>A
NM_198177.3:c.1451G>A
NM_198178.3:c.1010G>A
NP_000239.1:p.Gly399Glu
NP_001171896.1:p.Gly448Glu
NP_001341533.1:p.Gly506Glu
NP_001341534.1:p.Gly505Glu
NP_001341535.1:p.Gly499Glu
NP_001341536.1:p.Gly483Glu
NP_001341537.1:p.Gly448Glu
NP_006713.1:p.Gly499Glu
NP_937801.1:p.Gly393Glu
NP_937802.1:p.Gly500Glu
NP_937820.1:p.Gly484Glu
NP_937821.2:p.Gly337Glu
LRG_776t1:c.1196G>A
LRG_776:g.230703G>A
NC_000003.11:g.70014335G>A
NC_000003.11:g.70014335G>A
NM_000248.3:c.1196G>A

Protein change:

G337E

Links:

dbSNP: rs548265796

NCBI 1000 Genomes Browser:

rs548265796

Molecular consequence:

NM_000248.4:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.1517G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.1448G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003808814	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 30, 2022)	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

SCV003808814

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 30, 2022)

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	unknown	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 Revvity Omics, Revvity, SCV003808814.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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