NM_003002.4(SDHD):c.10C>T (p.Leu4Phe) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001017297.1

Allele description [Variation Report for NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)]

NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)

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.10C>T (p.Leu4Phe)
HGVS:
  • NC_000011.10:g.112086917C>T
  • NG_012337.3:g.5071C>T
  • NG_033145.1:g.4882G>A
  • NM_001276503.2:c.10C>T
  • NM_001276504.2:c.10C>T
  • NM_001276506.2:c.10C>T
  • NM_003002.4:c.10C>TMANE SELECT
  • NP_001263432.1:p.Leu4Phe
  • NP_001263433.1:p.Leu4Phe
  • NP_001263435.1:p.Leu4Phe
  • NP_002993.1:p.Leu4Phe
  • LRG_9t1:c.10C>T
  • LRG_9:g.5071C>T
  • LRG_9p1:p.Leu4Phe
  • NC_000011.9:g.111957641C>T
  • NM_003002.2:c.10C>T
  • NR_077060.2:n.45C>T
Protein change:
L4F
Links:
dbSNP: rs1032016970
NCBI 1000 Genomes Browser:
rs1032016970
Molecular consequence:
  • NM_001276503.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276504.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276506.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.45C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001178359Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001178359.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L4F variant (also known as c.10C>T), located in coding exon 1 of the SDHD gene, results from a C to T substitution at nucleotide position 10. The leucine at codon 4 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center