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NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 7, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000726690.16

Allele description [Variation Report for NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)]

NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)

Genes:
BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zDHHC palmitoyltransferase 24 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
HGVS:
  • NC_000011.10:g.66526649G>A
  • NG_009093.1:g.21002G>A
  • NM_001348571.2:c.*21+287C>T
  • NM_024649.5:c.1181G>AMANE SELECT
  • NP_078925.3:p.Gly394Asp
  • NC_000011.9:g.66294120G>A
  • NM_024649.4:c.1181G>A
Protein change:
G394D
Links:
dbSNP: rs141528309
NCBI 1000 Genomes Browser:
rs141528309
Molecular consequence:
  • NM_001348571.2:c.*21+287C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024649.5:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000702119Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Oct 15, 2016) 		germlineclinical testing

Citation Link,

SCV004023509GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 7, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000702119.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV004023509.2

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

Description

Reported along with a second variant in the BBS1 gene in a patient with congenital heart disease in the published literature; however, evidence in support of pathogenicity for this variant was not provided in the report (PMID: 28991257); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28991257)

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

Last Updated: Mar 16, 2025