NM_003002.3(SDHD):c.1A>G (p.Met1Val)

NM_003002.3(SDHD):c.1A>G (p.Met1Val)

Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
  • Chr11:111957632 (on Assembly GRCh37)
  • Chr11:112086908 (on Assembly GRCh38)
Protein change:
M1V
HGVS:
  • NG_033145.1:g.4891T>C
  • NG_012337.2:g.5062A>G
  • NM_012459.2:c.-140T>C
  • NM_003002.3:c.1A>G
  • NC_000011.10:g.112086908A>G (GRCh38)
  • NC_000011.9:g.111957632A>G (GRCh37)
  • NP_002993.1:p.Met1Val
  • NM_003002.2:c.1A>G
Links:
NCBI 1000 Genomes Browser:
rs104894307
Molecular consequence:
  • NM_003002.3:c.1A>G: missense variant SO:0001583
  • NM_012459.2:c.-140T>C: 2KB upstream variant SO:0001636
  • NR_077060.1:n.85A>G: non-coding transcript variant SO:0001619

Clinical significance

NM_003002.3(SDHD):c.1A>G (p.Met1Val)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Carotid body paraganglioma[MedGen]
See supporting ClinVar records

1 Affected Gene

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Recent Activity

Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Aug 26, 2014)
classified by single submitter
(literature only)
literature only
  • Carotid body paraganglioma[MedGen]
somaticPubMed (1)
OMIM
(Dec 30, 2010)
SCV000027518

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedsomaticnot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedsomatic

Description

In tumor sections from 3 unrelated patients with sporadic carotid body paraganglioma (see 168000), 1 with multiple paragangliomas and 2 with single tumors, Riemann et al. (2004) performed sequence analysis of the SDHD gene and identified a 1A-G transition in exon 1, resulting in a met1-to-val (M1V) substitution in the initiation codon. LOH and FISH analyses demonstrated partial/total monosomy for chromosome 11 in the tumor samples tested. A mutation at the same codon, M1I (602690.0015), had previously been reported in cases of familial paraganglioma.

Last Updated: Oct 30, 2014

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