NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 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:: RCV004045312.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg)]

NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg)

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.10641C>G (p.Ser3547Arg)

HGVS:

NC_000002.12:g.73572518C>G
NG_011690.1:g.191766C>G
NM_001378454.1:c.10641C>GMANE SELECT
NM_015120.4:c.10644C>G
NP_001365383.1:p.Ser3547Arg
NP_055935.4:p.Ser3548Arg
LRG_741t1:c.10644C>G
LRG_741:g.191766C>G
LRG_741p1:p.Ser3548Arg
NC_000002.11:g.73799645C>G
NM_015120.4:c.10644C>G

Protein change:

S3547R

Links:

dbSNP: rs893243465

NCBI 1000 Genomes Browser:

rs893243465

Molecular consequence:

NM_001378454.1:c.10641C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015120.4:c.10644C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005027098	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 10, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005027098

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 10, 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, SCV005027098.1

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

Description

The p.S3548R variant (also known as c.10644C>G), located in coding exon 16 of the ALMS1 gene, results from a C to G substitution at nucleotide position 10644. The serine at codon 3548 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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

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