NM_000541.5(SAG):c.944+5G>A AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2019
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:: RCV001002449.8

Allele description [Variation Report for NM_000541.5(SAG):c.944+5G>A]

NM_000541.5(SAG):c.944+5G>A

Gene:

SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_000541.5(SAG):c.944+5G>A

HGVS:

NC_000002.12:g.233335104G>A
NG_009116.1:g.32442G>A
NM_000541.5:c.944+5G>AMANE SELECT
NC_000002.11:g.234243750G>A
NM_000541.4:c.944+5G>A

Links:

dbSNP: rs374048703

NCBI 1000 Genomes Browser:

rs374048703

Molecular consequence:

NM_000541.5:c.944+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001160391	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Apr 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001160391

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Apr 11, 2019)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160391.1

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

Description

The SAG c.944+5G>A variant (rs374048703), to our knowledge, is not reported in the medical literature or gene-specific databases. However, ARUP Laboratories has detected this variant in an individual with an alternative molecular explanation for disease. The variant is reported in the general population with an overall allele frequency of 0.01% (32/279094 alleles) in the Genome Aggregation Database. This is an intronic variant in a highly conserved nucleotide, the +5 position is critical in RNA splicing, and computational analyses (Alamut v.2.11) predict that this variant alters splicing by weakening the upstream donor. However, given the lack of clinical and functional data, the significance of the variant is uncertain at this time.

#	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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