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NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV004701022.1

Allele description [Variation Report for NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val)]

NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val)

Gene:
CCDC8:coiled-coil domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val)
HGVS:
  • NC_000019.10:g.46411231G>A
  • NG_031956.1:g.7432C>T
  • NM_032040.5:c.1580C>TMANE SELECT
  • NP_114429.2:p.Ala527Val
  • LRG_1258t1:c.1580C>T
  • LRG_1258:g.7432C>T
  • LRG_1258p1:p.Ala527Val
  • NC_000019.9:g.46914488G>A
  • NM_032040.3:c.1580C>T
Protein change:
A527V
Molecular consequence:
  • NM_032040.5:c.1580C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005205229Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 14, 2024) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005205229.1

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

Description

Variant summary: CCDC8 c.1580C>T (p.Ala527Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6e-05 in 251414 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in CCDC8 causing Three M Syndrome 3 (6e-05 vs 0.0011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1580C>T in individuals affected with Three M Syndrome 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2456690). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024