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NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 28, 2020
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:
RCV001777138.2

Allele description [Variation Report for NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)]

NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)

Gene:
MBL2:mannose binding lectin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
Other names:
G54D
HGVS:
  • NC_000010.11:g.52771475C>T
  • NG_008196.1:g.5226G>A
  • NM_000242.3:c.161G>A
  • NM_001378373.1:c.161G>AMANE SELECT
  • NM_001378374.1:c.161G>A
  • NP_000233.1:p.Gly54Asp
  • NP_001365302.1:p.Gly54Asp
  • NP_001365303.1:p.Gly54Asp
  • LRG_154t1:c.161G>A
  • LRG_154:g.5226G>A
  • NC_000010.10:g.54531235C>T
  • NG_008196.1:p.Gly54Asp
  • NM_000242.2:c.161G>A
  • P11226:p.Gly54Asp
Protein change:
GLY54ASP
Links:
UniProtKB: P11226#VAR_004182; OMIM: 154545.0001; dbSNP: rs1800450
NCBI 1000 Genomes Browser:
rs1800450
Molecular consequence:
  • NM_000242.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378373.1:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378374.1:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002014644H3Africa Consortium - H3Africa
criteria provided, single submitter

(Choudhury A et al. (Nature 2020))		Benign
(Oct 28, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

High-depth African genomes inform human migration and health.

Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, Hazelhurst S, Mazandu G, Nyangiri OA, Mbiyavanga M, Benkahla A, Kassim SK, Mulder N, et al.

Nature. 2020 Oct;586(7831):741-748. doi: 10.1038/s41586-020-2859-7. Epub 2020 Oct 28. Erratum in: Nature. 2021 Apr;592(7856):E26. doi: 10.1038/s41586-021-03286-9.

PubMed [citation]
PMID:
33116287
PMCID:
PMC7759466

Details of each submission

From H3Africa Consortium - H3Africa, SCV002014644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.052, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.

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

Last Updated: Oct 20, 2024