NM_001354604.2(MITF):c.881-9C>G AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2021
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:: RCV002485390.1

Allele description [Variation Report for NM_001354604.2(MITF):c.881-9C>G]

NM_001354604.2(MITF):c.881-9C>G

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.881-9C>G

HGVS:

NC_000003.12:g.69951803C>G
NG_011631.1:g.217322C>G
NM_000248.4:c.560-9C>G
NM_001184967.2:c.725-27C>G
NM_001354604.2:c.881-9C>GMANE SELECT
NM_001354605.2:c.878-9C>G
NM_001354606.2:c.878-27C>G
NM_001354607.2:c.830-27C>G
NM_001354608.2:c.725-27C>G
NM_006722.3:c.878-27C>G
NM_198158.3:c.560-27C>G
NM_198159.3:c.881-27C>G
NM_198177.3:c.833-27C>G
NM_198178.3:c.392-27C>G
LRG_776t1:c.560-9C>G
LRG_776:g.217322C>G
NC_000003.11:g.70000954C>G
NM_000248.3:c.560-9C>G

Links:

dbSNP: rs766938558

NCBI 1000 Genomes Browser:

rs766938558

Molecular consequence:

NM_000248.4:c.560-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001184967.2:c.725-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354604.2:c.881-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354605.2:c.878-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354606.2:c.878-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354607.2:c.830-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354608.2:c.725-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_006722.3:c.878-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_198158.3:c.560-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_198159.3:c.881-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_198177.3:c.833-27C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_198178.3:c.392-27C>G - intron variant - [Sequence Ontology: SO:0001627]

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

Name:: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
Synonyms:: COMMAD syndrome
Identifiers:: MONDO: MONDO:0015014; MedGen: C4310625; OMIM: 617306

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002792620	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 8, 2021)	unknown	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

SCV002792620

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 8, 2021)

unknown

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002792620.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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