NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jun 9, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000947266.7

Allele description [Variation Report for NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val)]

NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val)

Gene:

SFTPA1:surfactant protein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

Preferred name:

NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val)

HGVS:

NC_000010.11:g.79611973C>G
NG_021189.1:g.6035C>G
NM_001093770.3:c.193C>G
NM_001164644.2:c.148C>G
NM_001164645.2:c.130+63C>G
NM_001164646.2:c.85+63C>G
NM_001164647.1:c.148C>G
NM_005411.5:c.148C>GMANE SELECT
NP_001087239.2:p.Leu65Val
NP_001158116.1:p.Leu50Val
NP_001158119.1:p.Leu50Val
NP_005402.3:p.Leu50Val
NP_005402.3:p.Leu50Val
NC_000010.10:g.81371729C>G
NM_001093770.2:c.193C>G
NM_005411.4:c.148C>G
Q8IWL2:p.Leu50Val

Protein change:

L50V

Links:

UniProtKB: Q8IWL2#VAR_012231; dbSNP: rs1136450

NCBI 1000 Genomes Browser:

rs1136450

Molecular consequence:

NM_001164645.2:c.130+63C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001164646.2:c.85+63C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001093770.3:c.193C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164644.2:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164647.1:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005411.5:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens serine protease 53 (PRSS53), transcript variant X3, mRNA
PREDICTED: Homo sapiens serine protease 53 (PRSS53), transcript variant X3, mRNA
gi|2217305800|ref|XM_011545818.4|

Nucleotide
polycomb group RING finger protein 2 isoform X1 [Homo sapiens]
polycomb group RING finger protein 2 isoform X1 [Homo sapiens]
gi|1034601081|ref|XP_016880505.1|

Protein
hypothetical_protein [Candidozyma auris]
hypothetical_protein [Candidozyma auris]
gi|1736233347|gnl|328792|CJI96_0005 |gb|QEO24554.1|

Protein
BPTI/Kunitz inhibitor domain-containing protein [Caenorhabditis elegans]
BPTI/Kunitz inhibitor domain-containing protein [Caenorhabditis elegans]
gi|71992017|ref|NP_499406.2|

Protein
RecName: Full=T-cell acute lymphocytic leukemia protein 2; Short=TAL-2; AltName:...
RecName: Full=T-cell acute lymphocytic leukemia protein 2; Short=TAL-2; AltName: Full=Class A basic helix-loop-helix protein 19; Short=bHLHa19
gi|7531207|sp|Q16559.1|TAL2_HUMAN

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001093438	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 31, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001950721	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 9, 2021)	germline	clinical testing	Citation Link,
SCV005221768	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001093438

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 31, 2019)

germline

clinical testing

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

SCV001950721

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 9, 2021)

germline

clinical testing

Citation Link,

SCV005221768

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001093438.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001950721.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 13680361)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005221768.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine