NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2017
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:: RCV000998101.22

Allele description [Variation Report for NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del)]

NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del)

Gene:

MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3p13

Genomic location:

Preferred name:

NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del)

HGVS:

NC_000003.12:g.69965198AGC[1]
NC_000003.12:g.69965198_69965200AGC[1]
NG_011631.1:g.230717AGC[1]
NM_000248.4:c.1210AGC[1]
NM_001184967.2:c.1357AGC[1]
NM_001354604.2:c.1531AGC[1]MANE SELECT
NM_001354605.2:c.1528AGC[1]
NM_001354606.2:c.1510AGC[1]
NM_001354607.2:c.1462AGC[1]
NM_001354608.2:c.1357AGC[1]
NM_006722.3:c.1510AGC[1]
NM_198158.3:c.1192AGC[1]
NM_198159.3:c.1513AGC[1]
NM_198177.3:c.1465AGC[1]
NM_198178.3:c.1024AGC[1]
NP_000239.1:p.Ser405del
NP_001171896.1:p.Ser454del
NP_001341533.1:p.Ser512del
NP_001341534.1:p.Ser511del
NP_001341535.1:p.Ser505del
NP_001341536.1:p.Ser489del
NP_001341537.1:p.Ser454del
NP_006713.1:p.Ser505del
NP_937801.1:p.Ser399del
NP_937802.1:p.Ser506del
NP_937820.1:p.Ser490del
NP_937821.2:p.Ser343del
LRG_776:g.230717AGC[1]
NC_000003.11:g.70014349AGC[1]

Protein change:

S343del

Links:

dbSNP: rs1576071470

NCBI 1000 Genomes Browser:

rs1576071470

Molecular consequence:

NM_000248.4:c.1210AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001184967.2:c.1357AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354604.2:c.1531AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354605.2:c.1528AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354606.2:c.1510AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354607.2:c.1462AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354608.2:c.1357AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006722.3:c.1510AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198158.3:c.1192AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198159.3:c.1513AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198177.3:c.1465AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198178.3:c.1024AGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV001153996	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001153996

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Aug 1, 2017)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001153996.27

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

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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