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NM_016333.4(SRRM2):c.1181dup (p.Ser395fs) AND Intellectual developmental disorder, autosomal dominant 72

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 27, 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:
RCV003988707.1

Allele description [Variation Report for NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)]

NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)

Gene:
SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)
HGVS:
  • NC_000016.10:g.2761709dup
  • NM_016333.4:c.1181dupMANE SELECT
  • NP_057417.3:p.Ser395fs
  • NC_000016.9:g.2811710dup
  • NM_016333.4:c.1181dupCMANE SELECT
Protein change:
S395fs
Molecular consequence:
  • NM_016333.4:c.1181dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual developmental disorder, autosomal dominant 72 (MRD72)
Identifiers:
MONDO: MONDO:0957397; MedGen: C5830612; OMIM: 620439

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004804818Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Feb 27, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004804818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024