NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu) AND SUDDEN INFANT DEATH SYNDROME

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 2021
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:: RCV001787413.1

Allele description [Variation Report for NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)]

NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)

Gene:

AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)

HGVS:

NC_000017.11:g.19958041T>C
NG_011493.1:g.24776A>G
NM_001330152.2:c.850A>G
NM_007202.4:c.850A>GMANE SELECT
NP_001317081.1:p.Lys284Glu
NP_009133.2:p.Lys284Glu
NC_000017.10:g.19861354T>C

Protein change:

K284E

Links:

dbSNP: rs985236104

NCBI 1000 Genomes Browser:

rs985236104

Molecular consequence:

NM_001330152.2:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007202.4:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SUDDEN INFANT DEATH SYNDROME (SIDS)
Synonyms:: Sudden Infant Death
Identifiers:: EFO: EFO_0005303; MeSH: D013398; MedGen: C0038644; OMIM: 272120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002030061	Robert's Program, Boston Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 1, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002030061

Robert's Program, Boston Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 1, 2021)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Robert's Program, Boston Children's Hospital, SCV002030061.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has been validated in an exome-wide approach, we suspect this variant is favoring pathogenic.

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

Last Updated: May 19, 2024

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