NM_003001.5(SDHC):c.295T>C (p.Tyr99His) AND Gastrointestinal stromal tumor

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 26, 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:: RCV003475064.2

Allele description [Variation Report for NM_003001.5(SDHC):c.295T>C (p.Tyr99His)]

NM_003001.5(SDHC):c.295T>C (p.Tyr99His)

Gene:

SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_003001.5(SDHC):c.295T>C (p.Tyr99His)

HGVS:

NC_000001.11:g.161356730T>C
NG_012767.1:g.47355T>C
NM_001035511.3:c.242-5599T>C
NM_001035512.3:c.193T>C
NM_001035513.3:c.136T>C
NM_001278172.3:c.140-5599T>C
NM_001407115.1:c.415T>C
NM_001407116.1:c.238T>C
NM_001407117.1:c.232T>C
NM_001407118.1:c.187T>C
NM_001407119.1:c.184T>C
NM_001407120.1:c.184T>C
NM_001407121.1:c.185-5599T>C
NM_003001.5:c.295T>CMANE SELECT
NP_001030589.1:p.Tyr65His
NP_001030590.1:p.Tyr46His
NP_001394044.1:p.Tyr139His
NP_001394045.1:p.Tyr80His
NP_001394046.1:p.Tyr78His
NP_001394047.1:p.Tyr63His
NP_001394048.1:p.Tyr62His
NP_001394049.1:p.Tyr62His
NP_002992.1:p.Tyr99His
NP_002992.1:p.Tyr99His
LRG_317t1:c.295T>C
LRG_317:g.47355T>C
LRG_317p1:p.Tyr99His
NC_000001.10:g.161326520T>C
NM_003001.3:c.295T>C
NR_103459.3:n.347T>C

Protein change:

Y139H

Links:

dbSNP: rs760678574

NCBI 1000 Genomes Browser:

rs760678574

Molecular consequence:

NM_001035511.3:c.242-5599T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001278172.3:c.140-5599T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407121.1:c.185-5599T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001035512.3:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001035513.3:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407115.1:c.415T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407116.1:c.238T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407117.1:c.232T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407118.1:c.187T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407119.1:c.184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407120.1:c.184T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003001.5:c.295T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_103459.3:n.347T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Gastrointestinal stromal tumor
Synonyms:: Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:: MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004203050	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 26, 2024)	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

SCV004203050

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 26, 2024)

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 Baylor Genetics, SCV004203050.2

#	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: Sep 29, 2024

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