U.S. flag

An official website of the United States government

NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2016
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:
RCV000414216.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly)]

NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.8224T>G (p.Cys2742Gly)
HGVS:
  • NC_000002.12:g.73490183T>G
  • NG_011690.1:g.109431T>G
  • NM_001378454.1:c.8224T>GMANE SELECT
  • NM_015120.4:c.8227T>G
  • NP_001365383.1:p.Cys2742Gly
  • NP_055935.4:p.Cys2743Gly
  • LRG_741t1:c.8227T>G
  • LRG_741:g.109431T>G
  • LRG_741p1:p.Cys2743Gly
  • NC_000002.11:g.73717310T>G
Protein change:
C2742G
Links:
dbSNP: rs774945791
NCBI 1000 Genomes Browser:
rs774945791
Molecular consequence:
  • NM_001378454.1:c.8224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.8227T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000492406GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 12, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000492406.1

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

Description

A variant of uncertain significance has been identified in the ALMS1 gene. The C2743G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C2743G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Apr 23, 2022