NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2024
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:: RCV004035491.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)]

NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)

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.11959T>C (p.Trp3987Arg)

HGVS:

NC_000002.12:g.73601281T>C
NG_011690.1:g.220529T>C
NM_001378454.1:c.11959T>CMANE SELECT
NM_015120.4:c.11962T>C
NP_001365383.1:p.Trp3987Arg
NP_055935.4:p.Trp3988Arg
LRG_741t1:c.11962T>C
LRG_741:g.220529T>C
LRG_741p1:p.Trp3988Arg
NC_000002.11:g.73828408T>C
NM_001378454.1:c.11959T>C

Protein change:

W3987R

Links:

dbSNP: rs375540445

NCBI 1000 Genomes Browser:

rs375540445

Molecular consequence:

NM_001378454.1:c.11959T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015120.4:c.11962T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005026701	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 31, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005026701

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 31, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005026701.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.W3988R variant (also known as c.11962T>C), located in coding exon 19 of the ALMS1 gene, results from a T to C substitution at nucleotide position 11962. The tryptophan at codon 3988 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine