NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 10, 2015
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:: RCV000271134.4

Allele description [Variation Report for NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)]

NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)

Gene:

CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)

HGVS:

NC_000002.12:g.210591913_210591915delinsTCT
NG_008285.1:g.119229_119231delinsTCT
NM_001122633.3:c.1030_1032delinsTCT
NM_001369256.1:c.1063_1065delinsTCT
NM_001369257.1:c.1030_1032delinsTCT
NM_001875.5:c.1030_1032delinsTCTMANE SELECT
NP_001116105.2:p.Thr344Ser
NP_001356185.1:p.Thr355Ser
NP_001356186.1:p.Thr344Ser
NP_001866.2:p.Thr344Ser
LRG_336:g.119229_119231delinsTCT
NC_000002.11:g.211456637_211456639delinsTCT
NR_161225.1:n.1942_1944delinsTCT

Protein change:

T344S

Links:

dbSNP: rs386654705

NCBI 1000 Genomes Browser:

rs386654705

Molecular consequence:

NM_001122633.3:c.1030_1032delinsTCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001369256.1:c.1063_1065delinsTCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001369257.1:c.1030_1032delinsTCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001875.5:c.1030_1032delinsTCT - missense variant - [Sequence Ontology: SO:0001583]
NR_161225.1:n.1942_1944delinsTCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000332264	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jun 10, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000332264

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jun 10, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332264.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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		1	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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