U.S. flag

An official website of the United States government

NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe) AND SDCCAG8-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004529042.2

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)]

NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)

Gene:
SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)
HGVS:
  • NC_000001.11:g.243341090G>T
  • NG_027811.1:g.90086G>T
  • NM_001350246.2:c.370G>T
  • NM_001350247.2:c.370G>T
  • NM_001350248.2:c.1369G>T
  • NM_001350249.2:c.979G>T
  • NM_001350251.2:c.370G>T
  • NM_006642.3:c.1273G>T
  • NM_006642.5:c.1273G>TMANE SELECT
  • NP_001337175.1:p.Val124Phe
  • NP_001337176.1:p.Val124Phe
  • NP_001337177.1:p.Val457Phe
  • NP_001337178.1:p.Val327Phe
  • NP_001337180.1:p.Val124Phe
  • NP_006633.1:p.Val425Phe
  • NC_000001.10:g.243504392G>T
Protein change:
V124F
Links:
dbSNP: rs370072966
NCBI 1000 Genomes Browser:
rs370072966
Molecular consequence:
  • NM_001350246.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350247.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350248.2:c.1369G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350249.2:c.979G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350251.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006642.5:c.1273G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SDCCAG8-related disorder
Synonyms:
SDCCAG8-Related Disorders; SDCCAG8-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105364PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 7, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004105364.3

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

Description

The SDCCAG8 c.1273G>T variant is predicted to result in the amino acid substitution p.Val425Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 10, 2024