U.S. flag

An official website of the United States government

NM_000035.4(ALDOB):c.525C>T (p.Ala175=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000727347.16

Allele description [Variation Report for NM_000035.4(ALDOB):c.525C>T (p.Ala175=)]

NM_000035.4(ALDOB):c.525C>T (p.Ala175=)

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.525C>T (p.Ala175=)
HGVS:
  • NC_000009.12:g.101427497G>A
  • NG_012387.1:g.13284C>T
  • NM_000035.4:c.525C>TMANE SELECT
  • NP_000026.2:p.Ala175=
  • LRG_1244t1:c.525C>T
  • LRG_1244:g.13284C>T
  • LRG_1244p1:p.Ala175=
  • NC_000009.11:g.104189779G>A
  • NM_000035.3:c.525C>T
Links:
dbSNP: rs144196914
NCBI 1000 Genomes Browser:
rs144196914
Molecular consequence:
  • NM_000035.4:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000707765Eurofins Ntd Llc (ga)
criteria provided, single submitter

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

Citation Link,

SCV004184811CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Nov 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000707765.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004184811.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ALDOB: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024