U.S. flag

An official website of the United States government

NM_001352514.2(HLCS):c.1658_1659del (p.His553fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 12, 2024
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:
RCV004725494.1

Allele description [Variation Report for NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)]

NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)

Gene:
HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
HGVS:
  • NC_000021.9:g.36897093_36897094del
  • NG_016193.2:g.98301_98302del
  • NM_000411.8:c.1217_1218del
  • NM_001242784.3:c.1217_1218del
  • NM_001242785.2:c.1217_1218del
  • NM_001352514.2:c.1658_1659delMANE SELECT
  • NM_001352515.2:c.1217_1218del
  • NM_001352516.2:c.1217_1218del
  • NM_001352517.1:c.1217_1218del
  • NM_001352518.2:c.1217_1218del
  • NP_000402.3:p.His406fs
  • NP_001229713.1:p.His406fs
  • NP_001229714.1:p.His406fs
  • NP_001339443.1:p.His553fs
  • NP_001339444.1:p.His406fs
  • NP_001339445.1:p.His406fs
  • NP_001339446.1:p.His406fs
  • NP_001339447.1:p.His406fs
  • NC_000021.8:g.38269393_38269394del
  • NM_000411.6:c.1217_1218del
  • NR_148020.2:n.1517_1518del
  • NR_148021.1:n.1674_1675del
Protein change:
H406fs
Molecular consequence:
  • NM_000411.8:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001242784.3:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001242785.2:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352514.2:c.1658_1659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352515.2:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352516.2:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352517.1:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352518.2:c.1217_1218del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148020.2:n.1517_1518del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1674_1675del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005332467GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Feb 12, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV005332467.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024