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NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Apr 1, 2025
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:
RCV001552293.7

Allele description [Variation Report for NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)]

NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)

Gene:
PSAP:prosaposin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
HGVS:
  • NC_000010.11:g.71834458C>A
  • NG_009301.1:g.21868G>T
  • NM_001042465.3:c.88G>T
  • NM_001042466.3:c.88G>T
  • NM_002778.4:c.88G>TMANE SELECT
  • NP_001035930.1:p.Ala30Ser
  • NP_001035931.1:p.Ala30Ser
  • NP_002769.1:p.Ala30Ser
  • NC_000010.10:g.73594215C>A
  • NM_002778.2:c.88G>T
  • NM_002778.3:c.88G>T
Protein change:
A30S
Links:
dbSNP: rs144942998
Molecular consequence:
  • NM_001042465.3:c.88G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042466.3:c.88G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002778.4:c.88G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001772957GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 18, 2020) 		germlineclinical testing

Citation Link,

SCV005909868CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2025) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001772957.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30037697)

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

From CeGaT Center for Human Genetics Tuebingen, SCV005909868.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PSAP: BP4

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

Last Updated: Jun 20, 2026

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