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NM_004577.4(PSPH):c.420C>T (p.Asn140=) AND Deficiency of phosphoserine phosphatase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001942564.3

Allele description [Variation Report for NM_004577.4(PSPH):c.420C>T (p.Asn140=)]

NM_004577.4(PSPH):c.420C>T (p.Asn140=)

Gene:
PSPH:phosphoserine phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_004577.4(PSPH):c.420C>T (p.Asn140=)
HGVS:
  • NC_000007.14:g.56017235G>A
  • NG_011473.1:g.39341C>T
  • NM_001370503.1:c.420C>T
  • NM_001370504.1:c.420C>T
  • NM_001370505.1:c.420C>T
  • NM_001370506.1:c.420C>T
  • NM_001370507.1:c.420C>T
  • NM_001370508.1:c.420C>T
  • NM_001370509.1:c.420C>T
  • NM_001370510.1:c.420C>T
  • NM_001370511.1:c.420C>T
  • NM_001370512.1:c.420C>T
  • NM_001370513.1:c.420C>T
  • NM_001370514.1:c.420C>T
  • NM_001370515.1:c.420C>T
  • NM_001370516.1:c.420C>T
  • NM_001370517.1:c.420C>T
  • NM_001370518.1:c.420C>T
  • NM_001370519.1:c.420C>T
  • NM_001370520.1:c.420C>T
  • NM_001370521.1:c.420C>T
  • NM_001370522.1:c.420C>T
  • NM_004577.4:c.420C>TMANE SELECT
  • NP_001357432.1:p.Asn140=
  • NP_001357433.1:p.Asn140=
  • NP_001357434.1:p.Asn140=
  • NP_001357435.1:p.Asn140=
  • NP_001357436.1:p.Asn140=
  • NP_001357437.1:p.Asn140=
  • NP_001357438.1:p.Asn140=
  • NP_001357439.1:p.Asn140=
  • NP_001357440.1:p.Asn140=
  • NP_001357441.1:p.Asn140=
  • NP_001357442.1:p.Asn140=
  • NP_001357443.1:p.Asn140=
  • NP_001357444.1:p.Asn140=
  • NP_001357445.1:p.Asn140=
  • NP_001357446.1:p.Asn140=
  • NP_001357447.1:p.Asn140=
  • NP_001357448.1:p.Asn140=
  • NP_001357449.1:p.Asn140=
  • NP_001357450.1:p.Asn140=
  • NP_001357451.1:p.Asn140=
  • NP_004568.2:p.Asn140=
  • NC_000007.13:g.56084928G>A
...more
Links:
dbSNP: rs146276460
NCBI 1000 Genomes Browser:
rs146276460
Molecular consequence:
  • NM_001370503.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370504.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370505.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370506.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370507.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370508.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370509.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370510.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370511.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370512.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370513.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370514.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370515.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370516.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370517.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370518.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370519.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370520.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370521.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370522.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004577.4:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Deficiency of phosphoserine phosphatase (PSPHD)
Synonyms:
Phosphoserine phosphatase deficiency; PSPH deficiency
Identifiers:
MONDO: MONDO:0013531; MedGen: C1291463; OMIM: 614023

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002131070Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Oct 17, 2022)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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