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NM_003002.4(SDHD):c.421T>C (p.Tyr141His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2023
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:
RCV003165869.8

Allele description

NM_003002.4(SDHD):c.421T>C (p.Tyr141His)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
HGVS:
  • NC_000011.10:g.112094911T>C
  • NG_012337.3:g.13065T>C
  • NM_001276503.2:c.*18T>C
  • NM_001276504.2:c.304T>C
  • NM_001276506.2:c.*119T>C
  • NM_003002.2:c.421T>C
  • NM_003002.4:c.421T>CMANE SELECT
  • NP_001263433.1:p.Tyr102His
  • NP_002993.1:p.Tyr141His
  • LRG_9t1:c.421T>C
  • LRG_9:g.13065T>C
  • LRG_9p1:p.Tyr141His
  • NC_000011.9:g.111965635T>C
  • NM_003002.3:c.421T>C
  • NR_077060.2:n.510T>C
Protein change:
Y102H
Links:
dbSNP: rs1394514096
NCBI 1000 Genomes Browser:
rs1394514096
Molecular consequence:
  • NM_001276503.2:c.*18T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276506.2:c.*119T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276504.2:c.304T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.421T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.510T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003906818Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003906818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Y141H variant (also known as c.421T>C), located in coding exon 4 of the SDHD gene, results from a T to C substitution at nucleotide position 421. The tyrosine at codon 141 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024