NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) AND Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Oct 3, 2023
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:: RCV000990912.9

Allele description [Variation Report for NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)]

NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)

Gene:

SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)

HGVS:

NC_000023.11:g.100664867C>T
NG_021337.1:g.25702C>T
NM_014467.3:c.449C>TMANE SELECT
NP_055282.1:p.Ser150Phe
NC_000023.10:g.99919864C>T
NM_014467.2:c.449C>T

Protein change:

S150F

Links:

dbSNP: rs373847965

NCBI 1000 Genomes Browser:

rs373847965

Molecular consequence:

NM_014467.3:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked (RESDX)
Synonyms:: Rolandic epilepsy, impaired intellectual development, and speech dyspraxia
Identifiers:: MONDO: MONDO:0010388; MedGen: C1845070; OMIM: 300643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000762469	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001141965	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000762469

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 3, 2023)

germline

clinical testing

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

SCV001141965

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000762469.7

#	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

From Mendelics, SCV001141965.1

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

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

Last Updated: Apr 15, 2024

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