NM_013275.6(ANKRD11):c.7671G>A (p.Met2557Ile) AND Autism spectrum disorder

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 2017
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:: RCV000719970.1

Allele description

NM_013275.6(ANKRD11):c.7671G>A (p.Met2557Ile)

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.7671G>A (p.Met2557Ile)

HGVS:

NC_000016.10:g.89274856C>T
NG_032003.1:g.220706G>A
NG_032003.2:g.220706G>A
NM_001256182.2:c.7671G>A
NM_001256183.2:c.7671G>A
NM_013275.6:c.7671G>AMANE SELECT
NP_001243111.1:p.Met2557Ile
NP_001243112.1:p.Met2557Ile
NP_037407.4:p.Met2557Ile
NC_000016.9:g.89341264C>T
NM_013275.4:c.7671G>A

Protein change:

M2557I

Links:

dbSNP: rs1567544079

NCBI 1000 Genomes Browser:

rs1567544079

Molecular consequence:

NM_001256182.2:c.7671G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001256183.2:c.7671G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013275.6:c.7671G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders; Autism susceptibility
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850844	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (May 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850844

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(May 18, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850844.2

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

Description

The p.M2557I variant (also known as c.7671G>A), located in coding exon 9 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 7671. The methionine at codon 2557 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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