NM_000488.4(SERPINC1):c.1358delinsATAA (p.Ile453delinsAsnAsn) AND SERPINC1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 2023
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:: RCV003397442.4

Allele description [Variation Report for NM_000488.4(SERPINC1):c.1358delinsATAA (p.Ile453delinsAsnAsn)]

NM_000488.4(SERPINC1):c.1358delinsATAA (p.Ile453delinsAsnAsn)

Gene:

SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q25.1

Genomic location:

Preferred name:

NM_000488.4(SERPINC1):c.1358delinsATAA (p.Ile453delinsAsnAsn)

HGVS:

NC_000001.11:g.173903926delinsTTAT
NG_012462.1:g.18453delinsATAA
NM_000488.4:c.1358delinsATAAMANE SELECT
NM_001365052.2:c.1214delinsATAA
NM_001386302.1:c.1481delinsATAA
NM_001386303.1:c.1439delinsATAA
NM_001386304.1:c.1337delinsATAA
NM_001386305.1:c.1301delinsATAA
NM_001386306.1:c.1142delinsATAA
NP_000479.1:p.Ile453delinsAsnAsn
NP_000479.1:p.Ile453delinsAsnAsn
NP_001351981.1:p.Ile405delinsAsnAsn
NP_001373231.1:p.Ile494delinsAsnAsn
NP_001373232.1:p.Ile480delinsAsnAsn
NP_001373233.1:p.Ile446delinsAsnAsn
NP_001373234.1:p.Ile434delinsAsnAsn
NP_001373235.1:p.Ile381delinsAsnAsn
LRG_577t1:c.1358delinsATAA
LRG_577:g.18453delinsATAA
NC_000001.10:g.173873064delinsTTAT
NM_000488.3:c.1358delTinsATAA
NM_000488.3:c.1358delinsATAA

Molecular consequence:

NM_000488.4:c.1358delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001365052.2:c.1214delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001386302.1:c.1481delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001386303.1:c.1439delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001386304.1:c.1337delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001386305.1:c.1301delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001386306.1:c.1142delinsATAA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: SERPINC1-related disorder
Synonyms:: SERPINC1-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

NADH-quinone oxidoreductase subunit 1 [Planctomycetes bacterium Pla133]
NADH-quinone oxidoreductase subunit 1 [Planctomycetes bacterium Pla133]
gi|1712638419|gnl|DSMZ|Pla133_02450 DU65181.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004105146	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 21, 2023)	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

SCV004105146

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 21, 2023)

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 PreventionGenetics, part of Exact Sciences, SCV004105146.1

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

Description

The SERPINC1 c.1358delinsATAA variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: May 19, 2024

ClinVar

Relating variation to medicine