NM_004985.5(KRAS):c.180_181delinsAA (p.Gln61Lys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 4, 2020
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:: RCV004412079.1

Allele description [Variation Report for NM_004985.5(KRAS):c.180_181delinsAA (p.Gln61Lys)]

NM_004985.5(KRAS):c.180_181delinsAA (p.Gln61Lys)

Gene:

KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_004985.5(KRAS):c.180_181delinsAA (p.Gln61Lys)

HGVS:

NC_000012.12:g.25227343_25227344delinsTT
NG_007524.2:g.28660_28661delinsAA
NM_001369786.1:c.180_181delinsAA
NM_001369787.1:c.180_181delinsAA
NM_004985.5:c.180_181delinsAAMANE SELECT
NM_033360.4:c.180_181delinsAA
NP_001356715.1:p.Gln61Lys
NP_001356716.1:p.Gln61Lys
NP_004976.2:p.Gln61Lys
NP_203524.1:p.Gln61Lys
LRG_344t1:c.180_181delinsAA
LRG_344t2:c.180_181delinsAA
LRG_344:g.28660_28661delinsAA
LRG_344p1:p.Gln61Lys
LRG_344p2:p.Gln61Lys
NC_000012.11:g.25380277_25380278delinsTT
NM_004985.3:c.180_181delTCinsAA

Protein change:

Q61K

Molecular consequence:

NM_001369786.1:c.180_181delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001369787.1:c.180_181delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_004985.5:c.180_181delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_033360.4:c.180_181delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004896301	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004896301

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 4, 2020)

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 Ambry Genetics, SCV004896301.1

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

Description

The c.180_181delTCinsAA () alteration, located in exon 3 (coding exon 2) of the KRAS gene, consists of an in-frame substitution of 2 nucleotides from position 180 to 181, resulting in the insertion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 7, 2024

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