NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 2024
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:: RCV001541066.5

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001759020	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001759020

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 5, 2024)

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, SCV001759020.4

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

Description

Published functional studies demonstrate conflicting results with respect to effect on DNA binding and phosphorylation abilities (PMID: 10587587, 23787126); Observed in individuals with melanoma or other cancers (PMID: 29625052); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28690485, 10587587, 10952390, 11764295, 23787126, 23098757, 29115496, 31589614, 36451132, 29625052, 8589691)

#	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: Oct 13, 2024

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