U.S. flag

An official website of the United States government

NM_000478.6(ALPL):c.297+2T>A AND Infantile hypophosphatasia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 3, 2016
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:
RCV000411240.2

Allele description [Variation Report for NM_000478.6(ALPL):c.297+2T>A]

NM_000478.6(ALPL):c.297+2T>A

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.297+2T>A
HGVS:
  • NC_000001.11:g.21561214T>A
  • NG_008940.1:g.56850T>A
  • NG_008940.2:g.57232T>A
  • NM_000478.6:c.297+2T>AMANE SELECT
  • NM_001127501.4:c.132+2T>A
  • NM_001177520.3:c.66+469T>A
  • NM_001369803.2:c.297+2T>A
  • NM_001369804.2:c.297+2T>A
  • NM_001369805.2:c.297+2T>A
  • NC_000001.10:g.21887707T>A
  • NM_000478.4:c.297+2T>A
Links:
dbSNP: rs1057517304
NCBI 1000 Genomes Browser:
rs1057517304
Molecular consequence:
  • NM_001177520.3:c.66+469T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000478.6:c.297+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127501.4:c.132+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369803.2:c.297+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369804.2:c.297+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369805.2:c.297+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Infantile hypophosphatasia
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500

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
SCV000487070Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Oct 3, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487070.2

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

Last Updated: Jul 29, 2023