NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu) AND Deficiency of alpha-mannosidase

Clinical significance:Uncertain significance (Last evaluated: Sep 4, 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:
RCV001278021.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)]

NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)
HGVS:
  • NC_000019.10:g.12646729G>A
  • NG_008318.1:g.25049C>T
  • NM_000528.4:c.2927C>TMANE SELECT
  • NM_001173498.2:c.2924C>T
  • NP_000519.2:p.Pro976Leu
  • NP_001166969.1:p.Pro975Leu
  • NC_000019.9:g.12757543G>A
Protein change:
P975L
Molecular consequence:
  • NM_000528.4:c.2927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.2924C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of alpha-mannosidase (MANSA)
Synonyms:
Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, alpha B lysosomal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009561; MedGen: C0024748; Orphanet: 61; OMIM: 248500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001465012Natera, Inc.no assertion criteria providedUncertain significance
(Sep 4, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001465012.1

#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: Jan 25, 2021

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