NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs) AND Syndromic X-linked intellectual disability 94

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 18, 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:: RCV004017190.2

Allele description [Variation Report for NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)]

NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)

Gene:

GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq25

Genomic location:

Preferred name:

NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)

HGVS:

NC_000023.11:g.123403083_123403086del
NG_009377.2:g.223841_223844del
NG_009377.3:g.223807_223810del
NM_000828.5:c.1170_1173del
NM_007325.5:c.1170_1173delMANE SELECT
NP_000819.4:p.Ser391fs
NP_015564.5:p.Ser391fs
NC_000023.10:g.122536934_122536937del

Protein change:

S391fs

Molecular consequence:

NM_000828.5:c.1170_1173del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007325.5:c.1170_1173del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Syndromic X-linked intellectual disability 94 (MRXSW)
Synonyms:: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
Identifiers:: MONDO: MONDO:0010402; MedGen: C2678051; OMIM: 300699

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004847109	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (Hauer et al. (Genet Med. 2018))	Likely pathogenic (Apr 18, 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

SCV004847109

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))

Likely pathogenic
(Apr 18, 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	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]

PMID:: 29758562
PMCID:: PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV004847109.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has been identified by standard clinical testing. Selected ACMG criteria: Likely pathogenic (I):PM2;PVS1

#	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		2	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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