NM_002778.4(PSAP):c.1146C>T (p.Cys382=) AND Metachromatic leukodystrophy

Clinical significance:Uncertain significance (Last evaluated: Apr 11, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272673.1

Allele description [Variation Report for NM_002778.4(PSAP):c.1146C>T (p.Cys382=)]

NM_002778.4(PSAP):c.1146C>T (p.Cys382=)

Gene:
PSAP:prosaposin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
HGVS:
  • NC_000010.11:g.71819760G>A
  • NG_009301.1:g.36566C>T
  • NM_001042465.3:c.1155C>T
  • NM_001042466.3:c.1152C>T
  • NM_002778.4:c.1146C>TMANE SELECT
  • NP_001035930.1:p.Cys385=
  • NP_001035931.1:p.Cys384=
  • NP_002769.1:p.Cys382=
  • NC_000010.10:g.73579517G>A
  • NM_002778.2:c.1146C>T
  • NM_002778.3:c.1146C>T
Links:
dbSNP: rs573095617
NCBI 1000 Genomes Browser:
rs573095617
Molecular consequence:
  • NM_001042465.3:c.1155C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042466.3:c.1152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002778.4:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001454912Natera, Inc.no assertion criteria providedUncertain significance
(Apr 11, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Natera, Inc., SCV001454912.1

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

Last Updated: Sep 7, 2021

Support Center