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NM_014915.3(ANKRD26):c.4999+1G>A AND ANKRD26-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004728319.1

Allele description [Variation Report for NM_014915.3(ANKRD26):c.4999+1G>A]

NM_014915.3(ANKRD26):c.4999+1G>A

Gene:
ANKRD26:ankyrin repeat domain containing 26 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.1
Genomic location:
Preferred name:
NM_014915.3(ANKRD26):c.4999+1G>A
HGVS:
  • NC_000010.11:g.27006916C>T
  • NG_031973.2:g.98583G>A
  • NM_001256053.2:c.4996+1G>A
  • NM_014915.3:c.4999+1G>AMANE SELECT
  • LRG_605t1:c.4999+1G>A
  • LRG_605:g.98583G>A
  • NC_000010.10:g.27295845C>T
  • NM_014915.2:c.4999+1G>A
Molecular consequence:
  • NM_001256053.2:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014915.3:c.4999+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
ANKRD26-related disorder
Synonyms:
ANKRD26-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005339489PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 21, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005339489.1

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

Description

The ANKRD26 c.4999+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Loss of function, including alterations to splicing, is not an established mechanism of ANKRD26-related disease. 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.

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

Last Updated: Oct 8, 2024