NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2016
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:: RCV000506428.15

Allele description [Variation Report for NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)]

NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)

Gene:

CTRC:chymotrypsin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.21

Genomic location:

Preferred name:

NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)

HGVS:

NC_000001.11:g.15445695_15445718del
NG_009253.1:g.12253_12276del
NM_007272.3:c.738_761delMANE SELECT
NP_009203.2:p.Lys247_Arg254del
NP_009203.2:p.Lys247_Arg254del
NC_000001.10:g.15772183_15772206del
NC_000001.10:g.15772190_15772213del
NM_007272.2:c.738_761del24
NM_007272.2:c.738_761delCAAGAAGCCGGTAGTCTACACCCG

Links:

OMIM: 601405.0002; dbSNP: rs515726210

NCBI 1000 Genomes Browser:

rs515726210

Molecular consequence:

NM_007272.3:c.738_761del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV000603252	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Nov 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000603252

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Nov 20, 2016)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603252.1

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine