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NM_139279.6(MCFD2):c.436C>A (p.Gln146Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2023
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:
RCV004335408.1

Allele description [Variation Report for NM_139279.6(MCFD2):c.436C>A (p.Gln146Lys)]

NM_139279.6(MCFD2):c.436C>A (p.Gln146Lys)

Gene:
MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_139279.6(MCFD2):c.436C>A (p.Gln146Lys)
HGVS:
  • NC_000002.12:g.46905468G>T
  • NG_016428.2:g.41388C>A
  • NM_001171506.2:c.436C>A
  • NM_001171507.2:c.436C>A
  • NM_001171508.2:c.436C>A
  • NM_001171509.3:c.280C>A
  • NM_001171510.3:c.280C>A
  • NM_001171511.3:c.379C>A
  • NM_139279.6:c.436C>AMANE SELECT
  • NP_001164977.1:p.Gln146Lys
  • NP_001164978.1:p.Gln146Lys
  • NP_001164979.1:p.Gln146Lys
  • NP_001164980.1:p.Gln94Lys
  • NP_001164981.1:p.Gln94Lys
  • NP_001164982.1:p.Gln127Lys
  • NP_644808.1:p.Gln146Lys
  • NP_644808.1:p.Gln146Lys
  • LRG_566t1:c.436C>A
  • LRG_566t2:c.436C>A
  • LRG_566t3:c.436C>A
  • LRG_566t4:c.436C>A
  • LRG_566:g.41388C>A
  • LRG_566p1:p.Gln146Lys
  • LRG_566p2:p.Gln146Lys
  • LRG_566p3:p.Gln146Lys
  • LRG_566p4:p.Gln146Lys
  • NC_000002.11:g.47132607G>T
  • NM_139279.5:c.436C>A
Protein change:
Q127K
Molecular consequence:
  • NM_001171506.2:c.436C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171507.2:c.436C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171508.2:c.436C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171509.3:c.280C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171510.3:c.280C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171511.3:c.379C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139279.6:c.436C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004062646Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004062646.2

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

Description

The c.436C>A (p.Q146K) alteration is located in exon 4 (coding exon 3) of the MCFD2 gene. This alteration results from a C to A substitution at nucleotide position 436, causing the glutamine (Q) at amino acid position 146 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024