NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs) AND Intellectual disability, autosomal recessive 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 19, 2021
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:: RCV003135151.3

Allele description [Variation Report for NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)]

NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)

Gene:

PRSS12:serine protease 12 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

4q26

Genomic location:

Preferred name:

NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)

HGVS:

NC_000004.12:g.118282877_118282883delinsGT
NG_023350.1:g.74885_74891delinsAC
NM_003619.4:c.2268_2274delinsACMANE SELECT
NP_003610.2:p.Arg757fs
NC_000004.11:g.119204032_119204038delinsGT

Protein change:

R757fs

Molecular consequence:

NM_003619.4:c.2268_2274delinsAC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal recessive 1 (MRT1)
Identifiers:: MONDO: MONDO:0009580; MedGen: C1855304; Orphanet: 88616; OMIM: 249500

Recent activity

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paramyosin isoform X1 [Sesamum indicum]
paramyosin isoform X1 [Sesamum indicum]
gi|1173788185|ref|XP_020548728.1|

Protein
retinol dehydrogenase 5 isoform X1 [Mus musculus]
retinol dehydrogenase 5 isoform X1 [Mus musculus]
gi|1907074127|ref|XP_036011599.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003817976	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 19, 2021)	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

SCV003817976

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 19, 2021)

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	unknown	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 Revvity Omics, Revvity, SCV003817976.2

#	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: Mar 16, 2024

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