NM_004274.5(AKAP6):c.1741A>G (p.Ser581Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 2024
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:: RCV004626777.1

Allele description [Variation Report for NM_004274.5(AKAP6):c.1741A>G (p.Ser581Gly)]

NM_004274.5(AKAP6):c.1741A>G (p.Ser581Gly)

Gene:

AKAP6:A-kinase anchoring protein 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_004274.5(AKAP6):c.1741A>G (p.Ser581Gly)

HGVS:

NC_000014.9:g.32546394A>G
NM_004274.5:c.1741A>GMANE SELECT
NP_004265.3:p.Ser581Gly
NC_000014.8:g.33015600A>G
NM_004274.4:c.1741A>G

Protein change:

S581G

Molecular consequence:

NM_004274.5:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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microtubule-associated protein 1S isoform X2 [Mus musculus]
microtubule-associated protein 1S isoform X2 [Mus musculus]
gi|1907189564|ref|XP_036009970.1|

Protein
Fundulus parvipinnis isolate FunBAT5 D-loop, partial sequence; mitochondrial
Fundulus parvipinnis isolate FunBAT5 D-loop, partial sequence; mitochondrial
gi|1336422709|gb|KY464828.1|

Nucleotide
PREDICTED: Homo sapiens gamma-aminobutyric acid type A receptor subunit beta2 (G...
PREDICTED: Homo sapiens gamma-aminobutyric acid type A receptor subunit beta2 (GABRB2), transcript variant X3, mRNA
gi|2462601941|ref|XM_054352308.1|

Nucleotide
gamma-aminobutyric acid receptor subunit beta-2 isoform X2 [Homo sapiens]
gamma-aminobutyric acid receptor subunit beta-2 isoform X2 [Homo sapiens]
gi|2462601944|ref|XP_054208284.1|

Protein
Homologene neighbors for GEO Profiles (Select 130984039) (0)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005123716	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 4, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005123716

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 4, 2024)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005123716.1

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

Description

The c.1741A>G (p.S581G) alteration is located in exon 4 (coding exon 3) of the AKAP6 gene. This alteration results from a A to G substitution at nucleotide position 1741, causing the serine (S) at amino acid position 581 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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