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NM_080747.3(KRT72):c.725A>C (p.Asn242Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 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:
RCV004310402.1

Allele description [Variation Report for NM_080747.3(KRT72):c.725A>C (p.Asn242Thr)]

NM_080747.3(KRT72):c.725A>C (p.Asn242Thr)

Gene:
KRT72:keratin 72 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_080747.3(KRT72):c.725A>C (p.Asn242Thr)
HGVS:
  • NC_000012.12:g.52592469T>G
  • NG_012427.1:g.14070A>C
  • NM_001146225.2:c.725A>C
  • NM_001146226.2:c.725A>C
  • NM_080747.3:c.725A>CMANE SELECT
  • NP_001139697.1:p.Asn242Thr
  • NP_001139698.1:p.Asn242Thr
  • NP_542785.1:p.Asn242Thr
  • NC_000012.11:g.52986253T>G
  • NM_080747.2:c.725A>C
Protein change:
N242T
Molecular consequence:
  • NM_001146225.2:c.725A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146226.2:c.725A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080747.3:c.725A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003958665Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003958665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.725A>C (p.N242T) alteration is located in exon 4 (coding exon 4) of the KRT72 gene. This alteration results from a A to C substitution at nucleotide position 725, causing the asparagine (N) at amino acid position 242 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024