NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 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:: RCV000523994.6

Allele description [Variation Report for NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)]

NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)

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.1154A>G (p.Asn385Ser)

HGVS:

NC_000003.12:g.69959395A>G
NG_011631.1:g.224914A>G
NM_000248.4:c.833A>G
NM_001184967.2:c.980A>G
NM_001354604.2:c.1154A>GMANE SELECT
NM_001354605.2:c.1151A>G
NM_001354606.2:c.1133A>G
NM_001354607.2:c.1085A>G
NM_001354608.2:c.980A>G
NM_006722.3:c.1133A>G
NM_198158.3:c.815A>G
NM_198159.3:c.1136A>G
NM_198177.3:c.1088A>G
NM_198178.3:c.647A>G
NP_000239.1:p.Asn278Ser
NP_000239.1:p.Asn278Ser
NP_001171896.1:p.Asn327Ser
NP_001341533.1:p.Asn385Ser
NP_001341534.1:p.Asn384Ser
NP_001341535.1:p.Asn378Ser
NP_001341536.1:p.Asn362Ser
NP_001341537.1:p.Asn327Ser
NP_006713.1:p.Asn378Ser
NP_937801.1:p.Asn272Ser
NP_937802.1:p.Asn379Ser
NP_937820.1:p.Asn363Ser
NP_937821.2:p.Asn216Ser
LRG_776t1:c.833A>G
LRG_776:g.224914A>G
LRG_776p1:p.Asn278Ser
NC_000003.11:g.70008546A>G
NM_000248.3:c.833A>G

Protein change:

N216S

Links:

dbSNP: rs368915509

NCBI 1000 Genomes Browser:

rs368915509

Molecular consequence:

NM_000248.4:c.833A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.980A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.1154A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.1151A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.980A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.1136A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.1088A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.647A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000620183	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000620183

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 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, SCV000620183.7

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with Hodgkin Lymphoma or soft tissue sarcoma (PMID: 34308104); This variant is associated with the following publications: (PMID: 31589614, 34308104)

#	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: Jan 13, 2025

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