NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001008515.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)]

NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)

Gene:
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)
HGVS:
  • NC_000005.10:g.90627718del
  • NG_007083.2:g.103375del
  • NM_032119.4:c.1180delMANE SELECT
  • NP_115495.3:p.Ser394fs
  • LRG_1095t1:c.1180del
  • LRG_1095:g.103375del
  • LRG_1095p1:p.Ser394fs
  • NC_000005.9:g.89923535del
  • NC_000005.9:g.89923535delT
  • NM_032119.3:c.1180delT
  • NR_003149.2:n.1279del
  • p.Ser394HisfsX12
Protein change:
S394fs
Links:
dbSNP: rs1400695342
NCBI 1000 Genomes Browser:
rs1400695342
Molecular consequence:
  • NM_032119.4:c.1180del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_003149.2:n.1279del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001168287GeneDxcriteria provided, single submitter
Likely pathogenic
(Jan 22, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001168287.1

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

Description

The c.1180delT variant in causes a frameshift starting with codon Serine 394, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser394HisfsX12. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.1180delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. In summary, we interpret this variant as likely pathogenic.

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

Last Updated: Jul 7, 2021

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