NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) AND Tietz syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 13, 2018
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:: RCV001145711.4

Allele description [Variation Report for NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)]

NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)

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.1517G>A (p.Gly506Glu)

HGVS:

NC_000003.12:g.69965184G>A
NG_011631.1:g.230703G>A
NM_000248.4:c.1196G>A
NM_001184967.2:c.1343G>A
NM_001354604.2:c.1517G>AMANE SELECT
NM_001354605.2:c.1514G>A
NM_001354606.2:c.1496G>A
NM_001354607.2:c.1448G>A
NM_001354608.2:c.1343G>A
NM_006722.3:c.1496G>A
NM_198158.3:c.1178G>A
NM_198159.3:c.1499G>A
NM_198177.3:c.1451G>A
NM_198178.3:c.1010G>A
NP_000239.1:p.Gly399Glu
NP_001171896.1:p.Gly448Glu
NP_001341533.1:p.Gly506Glu
NP_001341534.1:p.Gly505Glu
NP_001341535.1:p.Gly499Glu
NP_001341536.1:p.Gly483Glu
NP_001341537.1:p.Gly448Glu
NP_006713.1:p.Gly499Glu
NP_937801.1:p.Gly393Glu
NP_937802.1:p.Gly500Glu
NP_937820.1:p.Gly484Glu
NP_937821.2:p.Gly337Glu
LRG_776t1:c.1196G>A
LRG_776:g.230703G>A
NC_000003.11:g.70014335G>A
NC_000003.11:g.70014335G>A
NM_000248.3:c.1196G>A

Protein change:

G337E

Links:

dbSNP: rs548265796

NCBI 1000 Genomes Browser:

rs548265796

Molecular consequence:

NM_000248.4:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.1517G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.1448G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Parkinson disease protein 7 homolog isoform 2 [Rattus norvegicus]
Parkinson disease protein 7 homolog isoform 2 [Rattus norvegicus]
gi|16924002|ref|NP_476484.1|

Protein

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
SCV001306404	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Jan 13, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001306404

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Jan 13, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001306404.1

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#	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 8, 2024

ClinVar

Relating variation to medicine