NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 23, 2022
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:: RCV002286480.1

Allele description [Variation Report for NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)]

NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)

Gene:

SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)

HGVS:

NC_000016.10:g.2767303TC[1]
NM_016333.4:c.6777_6778delMANE SELECT
NP_057417.3:p.Arg2260fs
NC_000016.9:g.2817304TC[1]

Protein change:

R2260fs

Molecular consequence:

NM_016333.4:c.6777_6778del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Status epilepticus
Synonyms:: Repeated seizure without recovery
Identifiers:: MONDO: MONDO:0002125; MedGen: C0038220; Human Phenotype Ontology: HP:0002133

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Complex febrile seizure
Synonyms:: Complex febrile seizures; Complex febrile convulsion; Complex fever fit; See all synonyms [MedGen]
Identifiers:: MedGen: C0751057; Human Phenotype Ontology: HP:0011172

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002576434	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 23, 2022)	de novo	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

SCV002576434

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 23, 2022)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002576434.1

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

Description

This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1_STR, PS2_MOD, PM2_SUP

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

Last Updated: Oct 8, 2022

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