NM_000478.6(ALPL):c.979_980delinsGG (p.Phe327Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 7, 2022
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:: RCV002648136.3

Allele description [Variation Report for NM_000478.6(ALPL):c.979_980delinsGG (p.Phe327Gly)]

NM_000478.6(ALPL):c.979_980delinsGG (p.Phe327Gly)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_000478.6(ALPL):c.979_980delinsGG (p.Phe327Gly)

HGVS:

NC_000001.11:g.21573781_21573782delinsGG
NG_008940.2:g.69799_69800delinsGG
NM_000478.6:c.979_980delinsGGMANE SELECT
NM_001127501.4:c.814_815delinsGG
NM_001177520.3:c.748_749delinsGG
NM_001369803.2:c.979_980delinsGG
NM_001369804.2:c.979_980delinsGG
NM_001369805.2:c.979_980delinsGG
NP_000469.3:p.Phe327Gly
NP_001120973.2:p.Phe272Gly
NP_001170991.1:p.Phe250Gly
NP_001356732.1:p.Phe327Gly
NP_001356733.1:p.Phe327Gly
NP_001356734.1:p.Phe327Gly
NC_000001.10:g.21900274_21900275delinsGG
NG_008940.1:g.69417_69418delinsGG

Protein change:

F250G

Molecular consequence:

NM_000478.6:c.979_980delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001127501.4:c.814_815delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001177520.3:c.748_749delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001369803.2:c.979_980delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001369804.2:c.979_980delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001369805.2:c.979_980delinsGG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus toll-like receptor 5 (Tlr5), mRNA
Mus musculus toll-like receptor 5 (Tlr5), mRNA
gi|124248589|ref|NM_016928.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003523200	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 7, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 8954059, 9814472, 12412800, 15660230, 11438998, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003523200

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 7, 2022)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M.

J Clin Endocrinol Metab. 1996 Dec;81(12):4458-61.

PubMed [citation]

PMID:: 8954059

Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras.

Cai G, Michigami T, Yamamoto T, Yasui N, Satomura K, Yamagata M, Shima M, Nakajima S, Mushiake S, Okada S, Ozono K.

J Clin Endocrinol Metab. 1998 Nov;83(11):3936-42.

PubMed [citation]

PMID:: 9814472

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003523200.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is also known as F310G. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Phe327 amino acid residue in ALPL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8954059, 9814472, 12412800, 15660230). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This missense change has been observed in individual(s) with autosomal recessive hypophosphatasia (PMID: 11438998). This sequence change replaces phenylalanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 327 of the ALPL protein (p.Phe327Gly).

#	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: Sep 29, 2024

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