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NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 19, 2022
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:
RCV002316884.9

Allele description [Variation Report for NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met)]

NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met)

Gene:
ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met)
HGVS:
  • NC_000016.10:g.89284358G>C
  • NG_032003.2:g.211204C>G
  • NM_001256182.2:c.2184C>G
  • NM_001256183.2:c.2184C>G
  • NM_013275.6:c.2184C>GMANE SELECT
  • NP_001243111.1:p.Ile728Met
  • NP_001243112.1:p.Ile728Met
  • NP_037407.4:p.Ile728Met
  • NC_000016.9:g.89350766G>C
  • NG_032003.1:g.211204C>G
  • NM_013275.4:c.2184C>G
  • NM_013275.5:c.2184C>G
Protein change:
I728M
Links:
dbSNP: rs150810048
NCBI 1000 Genomes Browser:
rs150810048
Molecular consequence:
  • NM_001256182.2:c.2184C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.2184C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.2184C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000850688Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 19, 2022) 		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, SCV000850688.4

#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: Nov 10, 2024