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NM_138797.4(ANKRD54):c.779G>A (p.Arg260His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV004422270.1

Allele description [Variation Report for NM_138797.4(ANKRD54):c.779G>A (p.Arg260His)]

NM_138797.4(ANKRD54):c.779G>A (p.Arg260His)

Gene:
ANKRD54:ankyrin repeat domain 54 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_138797.4(ANKRD54):c.779G>A (p.Arg260His)
HGVS:
  • NC_000022.11:g.37832686C>T
  • NM_001349853.2:c.584G>A
  • NM_001363839.1:c.419G>A
  • NM_138797.4:c.779G>AMANE SELECT
  • NP_001336782.1:p.Arg195His
  • NP_001350768.1:p.Arg140His
  • NP_620152.1:p.Arg260His
  • NC_000022.10:g.38228693C>T
  • NM_138797.2:c.779G>A
  • NR_036556.2:n.983G>A
  • NR_146279.1:n.983G>A
  • NR_146280.1:n.978G>A
Protein change:
R140H
Molecular consequence:
  • NM_001349853.2:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363839.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138797.4:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_036556.2:n.983G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146279.1:n.983G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146280.1:n.978G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004908047Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 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, SCV004908047.1

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

Description

The c.779G>A (p.R260H) alteration is located in exon 7 (coding exon 7) of the ANKRD54 gene. This alteration results from a G to A substitution at nucleotide position 779, causing the arginine (R) at amino acid position 260 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024