NM_001354604.2(MITF):c.1182A>G (p.Glu394=) AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 31, 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:: RCV002517480.4

Allele description [Variation Report for NM_001354604.2(MITF):c.1182A>G (p.Glu394=)]

NM_001354604.2(MITF):c.1182A>G (p.Glu394=)

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.1182A>G (p.Glu394=)

HGVS:

NC_000003.12:g.69964849A>G
NG_011631.1:g.230368A>G
NM_000248.4:c.861A>G
NM_001184967.2:c.1008A>G
NM_001354604.2:c.1182A>GMANE SELECT
NM_001354605.2:c.1179A>G
NM_001354606.2:c.1161A>G
NM_001354607.2:c.1113A>G
NM_001354608.2:c.1008A>G
NM_006722.3:c.1161A>G
NM_198158.3:c.843A>G
NM_198159.3:c.1164A>G
NM_198177.3:c.1116A>G
NM_198178.3:c.675A>G
NP_000239.1:p.Glu287=
NP_000239.1:p.Glu287=
NP_001171896.1:p.Glu336=
NP_001341533.1:p.Glu394=
NP_001341534.1:p.Glu393=
NP_001341535.1:p.Glu387=
NP_001341536.1:p.Glu371=
NP_001341537.1:p.Glu336=
NP_006713.1:p.Glu387=
NP_937801.1:p.Glu281=
NP_937802.1:p.Glu388=
NP_937820.1:p.Glu372=
NP_937821.2:p.Glu225=
LRG_776t1:c.861A>G
LRG_776:g.230368A>G
LRG_776p1:p.Glu287=
NC_000003.11:g.70014000A>G
NM_000248.3:c.861A>G
NM_198159.2:c.1164A>G
p.Glu388Glu

Links:

dbSNP: rs137904015

NCBI 1000 Genomes Browser:

rs137904015

Molecular consequence:

NM_000248.4:c.861A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001184967.2:c.1008A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354604.2:c.1182A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354605.2:c.1179A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354606.2:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354607.2:c.1113A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354608.2:c.1008A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_006722.3:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198158.3:c.843A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198159.3:c.1164A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198177.3:c.1116A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198178.3:c.675A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Tietz syndrome (TADS)
Synonyms:: Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome
Identifiers:: MONDO: MONDO:0007077; MedGen: C0391816; Orphanet: 42665; OMIM: 103500

Name:: Waardenburg syndrome type 2A (WS2A)
Synonyms:: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Identifiers:: MONDO: MONDO:0008671; MedGen: C1860339; Orphanet: 3440; OMIM: 193510

Name:: Melanoma, cutaneous malignant, susceptibility to, 8
Synonyms:: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO; Cutaneous malignant melanoma 8
Identifiers:: MONDO: MONDO:0013759; MedGen: C3152204; Orphanet: 293822; OMIM: 614456

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001001525	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001001525

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001001525.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine