NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2022
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:: RCV003154078.1

Allele description [Variation Report for NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp)]

NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp)

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.1375A>G (p.Asn459Asp)

HGVS:

NC_000003.12:g.69965042A>G
NG_011631.1:g.230561A>G
NM_000248.4:c.1054A>G
NM_001184967.2:c.1201A>G
NM_001354604.2:c.1375A>GMANE SELECT
NM_001354605.2:c.1372A>G
NM_001354606.2:c.1354A>G
NM_001354607.2:c.1306A>G
NM_001354608.2:c.1201A>G
NM_006722.3:c.1354A>G
NM_198158.3:c.1036A>G
NM_198159.3:c.1357A>G
NM_198177.3:c.1309A>G
NM_198178.3:c.868A>G
NP_000239.1:p.Asn352Asp
NP_000239.1:p.Asn352Asp
NP_001171896.1:p.Asn401Asp
NP_001341533.1:p.Asn459Asp
NP_001341534.1:p.Asn458Asp
NP_001341535.1:p.Asn452Asp
NP_001341536.1:p.Asn436Asp
NP_001341537.1:p.Asn401Asp
NP_006713.1:p.Asn452Asp
NP_937801.1:p.Asn346Asp
NP_937802.1:p.Asn453Asp
NP_937820.1:p.Asn437Asp
NP_937821.2:p.Asn290Asp
LRG_776t1:c.1054A>G
LRG_776:g.230561A>G
LRG_776p1:p.Asn352Asp
NC_000003.11:g.70014193A>G
NM_000248.3:c.1054A>G

Protein change:

N290D

Molecular consequence:

NM_000248.4:c.1054A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.1372A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.1354A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.1354A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.1357A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.868A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus angiogenin, ribonuclease A family, member 4 (Ang4), mRNA
Mus musculus angiogenin, ribonuclease A family, member 4 (Ang4), mRNA
gi|157388976|ref|NM_177544.4|

Nucleotide
Cysteine-rich with EGF-like domains 1 [Mus musculus]
Cysteine-rich with EGF-like domains 1 [Mus musculus]
gi|14789842|gb|AAH10804.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003842738	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 15, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003842738

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 15, 2022)

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, SCV003842738.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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