NM_001354604.2(MITF):c.951C>G (p.Asn317Lys) AND Tietz syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000015345.28

Allele description [Variation Report for NM_001354604.2(MITF):c.951C>G (p.Asn317Lys)]

NM_001354604.2(MITF):c.951C>G (p.Asn317Lys)

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.951C>G (p.Asn317Lys)

HGVS:

NC_000003.12:g.69951882C>G
NG_011631.1:g.217401C>G
NM_000248.4:c.630C>G
NM_001184967.2:c.777C>G
NM_001354604.2:c.951C>GMANE SELECT
NM_001354605.2:c.948C>G
NM_001354606.2:c.930C>G
NM_001354607.2:c.882C>G
NM_001354608.2:c.777C>G
NM_006722.3:c.930C>G
NM_198158.3:c.612C>G
NM_198159.3:c.933C>G
NM_198177.3:c.885C>G
NM_198178.3:c.444C>G
NP_000239.1:p.Asn210Lys
NP_001171896.1:p.Asn259Lys
NP_001341533.1:p.Asn317Lys
NP_001341534.1:p.Asn316Lys
NP_001341535.1:p.Asn310Lys
NP_001341536.1:p.Asn294Lys
NP_001341537.1:p.Asn259Lys
NP_006713.1:p.Asn310Lys
NP_937801.1:p.Asn204Lys
NP_937802.1:p.Asn311Lys
NP_937820.1:p.Asn295Lys
NP_937821.2:p.Asn148Lys
LRG_776:g.217401C>G
NC_000003.11:g.70001033C>G

Protein change:

N148K; ASN210LYS

Links:

OMIM: 156845.0006; dbSNP: rs104893745

NCBI 1000 Genomes Browser:

rs104893745

Molecular consequence:

NM_000248.4:c.630C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001184967.2:c.777C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354604.2:c.951C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354605.2:c.948C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354606.2:c.930C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354607.2:c.882C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354608.2:c.777C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006722.3:c.930C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198158.3:c.612C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198159.3:c.933C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198177.3:c.885C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198178.3:c.444C>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035604	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2000)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10851256, 13985019

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035604

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2000)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

Smith SD, Kelley PM, Kenyon JB, Hoover D.

J Med Genet. 2000 Jun;37(6):446-8.

PubMed [citation]

PMID:: 10851256
PMCID:: PMC1734605

A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.

TIETZ W.

Am J Hum Genet. 1963 Sep;15:259-64. No abstract available.

PubMed [citation]

PMID:: 13985019
PMCID:: PMC1932384

Details of each submission

From OMIM, SCV000035604.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Smith et al. (2000) restudied the family with hypopigmentation and deafness (TADS; 103500) reported by Tietz (1963) and confirmed the existence of the syndrome through at least 4 generations. All affected individuals were born 'snow white,' but gradually gained some pigmentation, with fair skin and blond hair. Eyebrows and eyelashes remained blond. Hearing loss was always bilateral, congenital, and profound, and communication was primarily through signing. There was no variation in expression and penetrance was complete. Linkage to the region of MITF was demonstrated in the family and a unique heteroduplex pattern of exons 5 and 6 of MITF was found to segregate with affected members of the kindred. The change bordering exon 5 was adjacent to the splice junction consensus sequence. The change in exon 6 resulted in an asn210-to-lys amino acid substitution in the basic region of the transcription factor.

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

Last Updated: Sep 17, 2022

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