U.S. flag

An official website of the United States government

NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2021
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:
RCV001328464.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)]

NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)

Genes:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
LOC126806252:BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
HGVS:
  • NC_000002.12:g.73601425G>A
  • NG_011690.1:g.220673G>A
  • NM_001378454.1:c.12103G>AMANE SELECT
  • NM_015120.4:c.12106G>A
  • NP_001365383.1:p.Ala4035Thr
  • NP_055935.4:p.Ala4036Thr
  • LRG_741t1:c.12106G>A
  • LRG_741:g.220673G>A
  • LRG_741p1:p.Ala4036Thr
  • NC_000002.11:g.73828552G>A
  • NC_000002.11:g.73828552G>A
Protein change:
A4035T
Links:
dbSNP: rs757364858
NCBI 1000 Genomes Browser:
rs757364858
Molecular consequence:
  • NM_001378454.1:c.12103G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.12106G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001519611Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Mar 11, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001519611.1

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

Description

Variant summary: ALMS1 c.12100G>A (p.Ala4034Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 249478 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.12100G>A in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Feb 4, 2024