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NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 7, 2022
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:
RCV002932082.2

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)]

NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)

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.397G>T (p.Glu133Ter)
HGVS:
  • NC_000001.11:g.243274633G>T
  • NG_027811.1:g.23629G>T
  • NM_001350246.2:c.-716G>T
  • NM_001350247.2:c.-604G>T
  • NM_001350248.2:c.397G>T
  • NM_001350249.2:c.103G>T
  • NM_001350251.2:c.-977G>T
  • NM_006642.3:c.397G>T
  • NM_006642.5:c.397G>TMANE SELECT
  • NP_001337177.1:p.Glu133Ter
  • NP_001337178.1:p.Glu35Ter
  • NP_006633.1:p.Glu133Ter
  • NC_000001.10:g.243437935G>T
Protein change:
E133*
Links:
dbSNP: rs768207230
NCBI 1000 Genomes Browser:
rs768207230
Molecular consequence:
  • NM_001350246.2:c.-716G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350247.2:c.-604G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350251.2:c.-977G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350248.2:c.397G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350249.2:c.103G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006642.5:c.397G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003602783Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 7, 2022) 		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, SCV003602783.2

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

Description

The c.397G>T (p.E133*) alteration, located in exon 4 (coding exon 4) of the SDCCAG8 gene, consists of a G to T substitution at nucleotide position 397. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 133. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (3/251258) total alleles studied. The highest observed frequency was 0.01% (3/34558) of Latino alleles. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Apr 7, 2025