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NM_001386125.1(OBSCN):c.1041G>A (p.Lys347=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 7, 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:
RCV004243338.1

Allele description [Variation Report for NM_001386125.1(OBSCN):c.1041G>A (p.Lys347=)]

NM_001386125.1(OBSCN):c.1041G>A (p.Lys347=)

Genes:
OBSCN-AS1:OBSCN antisense RNA 1 [Gene - HGNC]
OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_001386125.1(OBSCN):c.1041G>A (p.Lys347=)
HGVS:
  • NC_000001.11:g.228213493G>A
  • NG_032122.1:g.10334G>A
  • NM_001098623.2:c.1041G>A
  • NM_001271223.3:c.1041G>A
  • NM_001386125.1:c.1041G>AMANE SELECT
  • NM_052843.4:c.1041G>A
  • NP_001092093.2:p.Lys347=
  • NP_001258152.2:p.Lys347=
  • NP_001373054.1:p.Lys347=
  • NP_443075.3:p.Lys347=
  • LRG_412t1:c.1041G>A
  • LRG_412t2:c.1041G>A
  • LRG_412:g.10334G>A
  • LRG_412p1:p.Lys347=
  • LRG_412p2:p.Lys347=
  • NC_000001.10:g.228401194G>A
  • NM_052843.2:c.1041G>A
  • NR_073154.1:n.172C>T
  • NR_073155.1:n.163C>T
Molecular consequence:
  • NR_073154.1:n.172C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073155.1:n.163C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001098623.2:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271223.3:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386125.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_052843.4:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003860104Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003860104.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024