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NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND MITF-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2024
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:
RCV003974827.2

Allele description [Variation Report for NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)]

NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)

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.1213T>C (p.Ser405Pro)
HGVS:
  • NC_000003.12:g.69964880T>C
  • NG_011631.1:g.230399T>C
  • NM_000248.4:c.892T>C
  • NM_001184967.2:c.1039T>C
  • NM_001354604.2:c.1213T>CMANE SELECT
  • NM_001354605.2:c.1210T>C
  • NM_001354606.2:c.1192T>C
  • NM_001354607.2:c.1144T>C
  • NM_001354608.2:c.1039T>C
  • NM_006722.3:c.1192T>C
  • NM_198158.3:c.874T>C
  • NM_198159.3:c.1195T>C
  • NM_198177.3:c.1147T>C
  • NM_198178.3:c.706T>C
  • NP_000239.1:p.Ser298Pro
  • NP_000239.1:p.Ser298Pro
  • NP_001171896.1:p.Ser347Pro
  • NP_001341533.1:p.Ser405Pro
  • NP_001341534.1:p.Ser404Pro
  • NP_001341535.1:p.Ser398Pro
  • NP_001341536.1:p.Ser382Pro
  • NP_001341537.1:p.Ser347Pro
  • NP_006713.1:p.Ser398Pro
  • NP_937801.1:p.Ser292Pro
  • NP_937802.1:p.Ser399Pro
  • NP_937820.1:p.Ser383Pro
  • NP_937821.2:p.Ser236Pro
  • LRG_776t1:c.892T>C
  • LRG_776:g.230399T>C
  • LRG_776p1:p.Ser298Pro
  • NC_000003.11:g.70014031T>C
  • NM_000248.3:c.892T>C
Protein change:
S236P; SER298PRO
Links:
OMIM: 156845.0008; dbSNP: rs104893747
NCBI 1000 Genomes Browser:
rs104893747
Molecular consequence:
  • NM_000248.4:c.892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184967.2:c.1039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354604.2:c.1213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354605.2:c.1210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354606.2:c.1192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354607.2:c.1144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354608.2:c.1039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006722.3:c.1192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198158.3:c.874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198159.3:c.1195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198177.3:c.1147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198178.3:c.706T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MITF-related disorder
Synonyms:
MITF-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004788188PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 23, 2024)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004788188.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MITF c.892T>C variant is predicted to result in the amino acid substitution p.Ser298Pro. This variant has been reported to segregate with Type 2 Waardenburg syndrome in a multigenerational pedigree (Tassabehji et al. 1995. PubMed ID: 8589691). It has also been reported in an individual with head and neck squamous cell carcinoma and an individual with cutaneous melanoma (Huang et al. 2018. PubMed ID: 29625052, Table S2B, Chr3:g.70014031T>C). In vitro experimental studies provide conflicting results of this variants impact on protein function (Takeda et al. 2000. PubMed ID: 10587587; Grill et al. 2013. PubMed ID: 23787126). It is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/14277/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024