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NM_001354604.2(MITF):c.666+15G>C AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 9, 2018
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:
RCV000603205.4

Allele description [Variation Report for NM_001354604.2(MITF):c.666+15G>C]

NM_001354604.2(MITF):c.666+15G>C

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.666+15G>C
HGVS:
  • NC_000003.12:g.69939196G>C
  • NG_011631.1:g.204715G>C
  • NM_000248.4:c.345+15G>C
  • NM_001184967.2:c.510+15G>C
  • NM_001354604.2:c.666+15G>CMANE SELECT
  • NM_001354605.2:c.663+15G>C
  • NM_001354606.2:c.663+15G>C
  • NM_001354607.2:c.615+15G>C
  • NM_001354608.2:c.510+15G>C
  • NM_006722.3:c.663+15G>C
  • NM_198158.3:c.345+15G>C
  • NM_198159.3:c.666+15G>C
  • NM_198177.3:c.618+15G>C
  • NM_198178.3:c.177+15G>C
  • LRG_776:g.204715G>C
  • NC_000003.11:g.69988347G>C
  • NM_198159.2:c.666+15G>C
Links:
dbSNP: rs201698367
NCBI 1000 Genomes Browser:
rs201698367
Molecular consequence:
  • NM_000248.4:c.345+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184967.2:c.510+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354604.2:c.666+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354605.2:c.663+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354606.2:c.663+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354607.2:c.615+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354608.2:c.510+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006722.3:c.663+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198158.3:c.345+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198159.3:c.666+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198177.3:c.618+15G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198178.3:c.177+15G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000711493Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Jan 9, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.666+15G>C in intron 4 of MITF: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 21/30630 South Asian chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201698367 ).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jan 13, 2025