U.S. flag

An official website of the United States government

NM_000190.4(HMBS):c.267-9T>G AND HMBS-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003427822.5

Allele description [Variation Report for NM_000190.4(HMBS):c.267-9T>G]

NM_000190.4(HMBS):c.267-9T>G

Gene:
HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000190.4(HMBS):c.267-9T>G
HGVS:
  • NC_000011.10:g.119089674T>G
  • NG_008093.1:g.9798T>G
  • NM_000190.4:c.267-9T>GMANE SELECT
  • NM_001024382.2:c.216-9T>G
  • NM_001258208.2:c.267-9T>G
  • NM_001258209.2:c.216-9T>G
  • LRG_1076t1:c.267-9T>G
  • LRG_1076t2:c.216-9T>G
  • LRG_1076:g.9798T>G
  • NC_000011.9:g.118960384T>G
  • NM_000190.3:c.267-9T>G
Molecular consequence:
  • NM_000190.4:c.267-9T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001024382.2:c.216-9T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258208.2:c.267-9T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258209.2:c.216-9T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
HMBS-related disorder
Synonyms:
HMBS-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004108433PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Mar 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004108433.2

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

Description

The HMBS c.267-9T>G variant is predicted to interfere with splicing. This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024