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NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 21, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000352944.8

Allele description [Variation Report for NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)]

NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)

Gene:
ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
HGVS:
  • NC_000009.12:g.101427498G>T
  • NG_012387.1:g.13283C>A
  • NM_000035.4:c.524C>AMANE SELECT
  • NP_000026.2:p.Ala175Asp
  • LRG_1244t1:c.524C>A
  • LRG_1244:g.13283C>A
  • LRG_1244p1:p.Ala175Asp
  • NC_000009.11:g.104189780G>T
  • NM_000035.3:c.524C>A
  • NP_000026.2:p.A175D
  • P05062:p.Ala175Asp
Protein change:
A175D; ALA174ASP
Links:
UniProtKB: P05062#VAR_000554; OMIM: 612724.0002; dbSNP: rs76917243
NCBI 1000 Genomes Browser:
rs76917243
Molecular consequence:
  • NM_000035.4:c.524C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000230834Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Oct 3, 2017) 		germlineclinical testing

Citation Link,

SCV000330017GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 21, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown6not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230834.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

From GeneDx, SCV000330017.8

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(A174D); This variant is associated with the following publications: (PMID: 32709737, 20848650, 12205126, 22975760, 1967768, 26937407, 10024431, 15532022, 32860008, 31589614, 31980526, 34426522, 33726816, 31319225, 34162028, 12417303, 23430936, 15880727, 18541450, 36007526)

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

Last Updated: Oct 13, 2024