NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu) AND Hereditary antithrombin deficiency

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jun 14, 2016
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:: RCV000336934.15

Allele description [Variation Report for NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)]

NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

Preferred name:

NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)

HGVS:

NC_000001.11:g.173909609G>C
NG_012462.1:g.12770C>G
NM_000488.4:c.1096C>GMANE SELECT
NM_001365052.2:c.952C>G
NM_001386302.1:c.1219C>G
NM_001386303.1:c.1177C>G
NM_001386304.1:c.1075C>G
NM_001386305.1:c.1039C>G
NM_001386306.1:c.880C>G
NP_000479.1:p.Gln366Glu
NP_000479.1:p.Gln366Glu
NP_001351981.1:p.Gln318Glu
NP_001373231.1:p.Gln407Glu
NP_001373232.1:p.Gln393Glu
NP_001373233.1:p.Gln359Glu
NP_001373234.1:p.Gln347Glu
NP_001373235.1:p.Gln294Glu
LRG_577t1:c.1096C>G
LRG_577:g.12770C>G
LRG_577p1:p.Gln366Glu
NC_000001.10:g.173878747G>C
NM_000488.3:c.1096C>G

Protein change:

Q294E

Links:

dbSNP: rs565091601

NCBI 1000 Genomes Browser:

rs565091601

Molecular consequence:

NM_000488.4:c.1096C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365052.2:c.952C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386302.1:c.1219C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386303.1:c.1177C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386304.1:c.1075C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386305.1:c.1039C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386306.1:c.880C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary antithrombin deficiency (AT3D)
Synonyms:: Antithrombin III deficiency; Thrombophilia due to antithrombin III deficiency; Reduced antithrombin III activity; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013144; MedGen: C0272375; OMIM: 613118; Human Phenotype Ontology: HP:0001976

Recent activity

Clear Turn Off Turn On

Polychaeta sp. EBS61o-Po117 cytochrome oxidase subunit 1 gene, partial cds; mito...
Polychaeta sp. EBS61o-Po117 cytochrome oxidase subunit 1 gene, partial cds; mitochondrial
gi|763550017|gb|KJ736722.1|

Nucleotide

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
SCV000351479	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV002499591	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34355501, 25741868
SCV004099394	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Uncertain significance (Oct 30, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000351479

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002499591

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004099394

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Uncertain significance
(Oct 30, 2023)

germline

clinical testing

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]

PMID:: 34355501
PMCID:: PMC9291976

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 Illumina Laboratory Services, Illumina, SCV000351479.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002499591.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099394.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine