NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) AND HNSHA due to aldolase A deficiency

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Oct 22, 2024
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:: RCV000349193.14

Allele description [Variation Report for NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)]

NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)

Genes:

ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
LOC112694756:uncharaterized LOC112694756 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)

HGVS:

NC_000016.10:g.30070002G>A
NG_008010.1:g.21833G>A
NM_001127617.2:c.972G>A
NM_001243177.4:c.1134G>AMANE SELECT
NM_001365304.2:c.*1481G>AMANE SELECT
NM_001365305.2:c.*1481G>A
NM_001365307.2:c.*1481G>A
NM_184041.5:c.972G>A
NM_184043.2:c.972G>A
NP_001121089.1:p.Ala324=
NP_001230106.1:p.Ala378=
NP_908930.1:p.Ala324=
NP_908932.1:p.Ala324=
LRG_1180t1:c.972G>A
LRG_1180t2:c.1134G>A
LRG_1180:g.21833G>A
LRG_1180p1:p.Ala324=
LRG_1180p2:p.Ala378=
NC_000016.9:g.30081323G>A

Links:

dbSNP: rs530089317

NCBI 1000 Genomes Browser:

rs530089317

Molecular consequence:

NM_001365304.2:c.*1481G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001365305.2:c.*1481G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001365307.2:c.*1481G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001127617.2:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001243177.4:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_184041.5:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_184043.2:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: HNSHA due to aldolase A deficiency (GSD12)
Synonyms:: GLYCOGEN STORAGE DISEASE XII; GSD XII; RED CELL ALDOLASE DEFICIENCY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012747; MedGen: C0272066; Orphanet: 57; OMIM: 611881

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000396458	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV002469522	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 22, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000396458

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002469522

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 22, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000396458.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002469522.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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