NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000757241.11

Allele description

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

Genes:

PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

HGVS:

NC_000006.12:g.63721609C>T
NG_023443.2:g.1990617G>A
NG_034034.2:g.90809C>T
NM_001142800.2:c.8422G>AMANE SELECT
NM_001290259.2:c.*7901C>T
NM_001292009.2:c.8485G>A
NM_001370348.2:c.*7901C>TMANE SELECT
NM_001370349.2:c.*7901C>T
NM_001370350.2:c.*7901C>T
NM_015153.4:c.*7901C>T
NP_001136272.1:p.Ala2808Thr
NP_001278938.1:p.Ala2829Thr
NC_000006.11:g.64431505C>T
NM_001142800.1:c.8422G>A

Protein change:

A2808T

Links:

dbSNP: rs111991705

NCBI 1000 Genomes Browser:

rs111991705

Molecular consequence:

NM_001290259.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001292009.2:c.8485G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000969393	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Jul 26, 2016)	germline	clinical testing	Citation Link,
SCV001121330	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000969393

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Jul 26, 2016)

germline

clinical testing

Citation Link,

SCV001121330

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From GeneDx, SCV000969393.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From Invitae, SCV001121330.6

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

#	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: Sep 1, 2024

ClinVar

Relating variation to medicine