NM_006947.4(SRP72):c.25dup (p.Val9fs) AND SRP72-related disorder

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 2023
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:: RCV003408227.5

Allele description

NM_006947.4(SRP72):c.25dup (p.Val9fs)

Genes:

LOC129992625:ATAC-STARR-seq lymphoblastoid active region 21580 [Gene]
SRP72:signal recognition particle 72 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_006947.4(SRP72):c.25dup (p.Val9fs)

HGVS:

NC_000004.12:g.56467660dup
NG_032796.1:g.5065dup
NM_001267722.2:c.25dup
NM_006947.4:c.25dupMANE SELECT
NP_001254651.1:p.Val9fs
NP_008878.3:p.Val9fs
LRG_1151t1:c.25dup
LRG_1151:g.5065dup
LRG_1151p1:p.Val9fs
NC_000004.11:g.57333819_57333820insG
NC_000004.11:g.57333826dup
NM_006947.3:c.25dup
NM_006947.3:c.25dupG
NR_151856.2:n.44dup

Protein change:

V9fs

Molecular consequence:

NM_001267722.2:c.25dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006947.4:c.25dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_151856.2:n.44dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: SRP72-related disorder
Synonyms:: SRP72-related condition
Identifiers:

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Homo sapiens cilia and flagella associated protein 298 (CFAP298), transcript var...
Homo sapiens cilia and flagella associated protein 298 (CFAP298), transcript variant 5, mRNA
gi|1677703392|ref|NM_001350337.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004115244	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 25, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004115244

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 25, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115244.2

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

Description

The SRP72 c.25dupG variant is predicted to result in a frameshift and premature protein termination (p.Val9Glyfs*9). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-57333819-C-CG). Loss of function has not been conclusively established as a mechanism for SRP72-related disorders. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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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